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
PDZD8	118987	broad.mit.edu	37	10	119043306	119043306	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:119043306T>C	uc001lde.1	-	c.2938A>G	c.(2938-2940)AGT>GGT	p.S980G		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	980					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)										0.246575	484.328914	531.41076	198	605	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119043306	119043306	12126	10	T	C	C	C	715	55	PDZD8	4	4
PCDH15	65217	broad.mit.edu	37	10	55582403	55582403	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55582403C>T	uc010qhy.1	-	c.5104G>A	c.(5104-5106)GAG>AAG	p.E1702K	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.E1692K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1655K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1626K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1697K|PCDH15_uc010qia.1_Missense_Mutation_p.E1675K|PCDH15_uc001jju.1_Missense_Mutation_p.E1695K|PCDH15_uc010qib.1_Missense_Mutation_p.E1672K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	1695	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				0.075	-3.729031	11.162729	6	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55582403	55582403	11931	10	C	T	T	T	377	29	PCDH15	2	2
P4HA1	5033	broad.mit.edu	37	10	74813242	74813242	+	Silent	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:74813242G>A	uc010qka.1	-	c.570C>T	c.(568-570)GCC>GCT	p.A190A	P4HA1_uc001jtg.2_Silent_p.A190A|P4HA1_uc001jth.2_Silent_p.A190A|P4HA1_uc010qkb.1_Silent_p.A190A|P4HA1_uc001jti.2_Non-coding_Transcript	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	190					oxidation-reduction process	endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	Colon(147;367 2405 2662 52127)								0.098131	10.22902	44.880207	21	193	KEEP	---	---	---	---	capture		Silent	SNP	74813242	74813242	11769	10	G	A	A	A	548	43	P4HA1	2	2
CYP2C18	1562	broad.mit.edu	37	10	96484123	96484123	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96484123G>C	uc001kjv.3	+	c.982G>C	c.(982-984)GAA>CAA	p.E328Q	CYP2C18_uc001kjw.3_Missense_Mutation_p.E269Q|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_5'UTR	NM_000772	NP_000763	P33260	CP2CI_HUMAN	cytochrome P450 family 2 subfamily C polypeptide	328					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(3)|lung(1)	4		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)										0.218698	365.791318	409.476256	131	468	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96484123	96484123	4330	10	G	C	C	C	585	45	CYP2C18	3	3
MMS19	64210	broad.mit.edu	37	10	99240761	99240761	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:99240761C>A	uc001kns.3	-	c.200G>T	c.(199-201)CGA>CTA	p.R67L	MMS19_uc009xvt.2_5'UTR|MMS19_uc001knr.2_5'UTR|MMS19_uc010qox.1_Missense_Mutation_p.R88L|MMS19_uc001knt.2_Missense_Mutation_p.R67L	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog	67	HEAT 1.				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)										0.263158	13.666725	14.630369	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99240761	99240761	10063	10	C	A	A	A	403	31	MMS19	1	1
ACRV1	56	broad.mit.edu	37	11	125547931	125547931	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:125547931T>A	uc001qcs.2	-	c.314A>T	c.(313-315)GAA>GTA	p.E105V	ACRV1_uc001qck.2_Intron|ACRV1_uc001qcl.2_Intron|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.E50V|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Intron|ACRV1_uc001qcr.2_Missense_Mutation_p.E105V	NM_001612	NP_001603	P26436	ASPX_HUMAN	acrosomal vesicle protein 1 isoform a precursor	105	4 X 4 AA repeats of S-G-E-H.				multicellular organismal development	acrosomal vesicle					0	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)										0.293785	127.937296	134.672496	52	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125547931	125547931	173	11	T	A	A	A	806	62	ACRV1	3	3
LRRC4C	57689	broad.mit.edu	37	11	40136654	40136654	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:40136654C>G	uc001mxa.1	-	c.1189G>C	c.(1189-1191)GGG>CGG	p.G397R	LRRC4C_uc001mxc.1_Missense_Mutation_p.G393R|LRRC4C_uc001mxd.1_Missense_Mutation_p.G393R|LRRC4C_uc001mxb.1_Missense_Mutation_p.G393R	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	397	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5		all_lung(304;0.0575)|Lung NSC(402;0.138)												0.208243	242.266178	278.601949	96	365	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40136654	40136654	9383	11	C	G	G	G	273	21	LRRC4C	3	3
OR52R1	119695	broad.mit.edu	37	11	4825678	4825678	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4825678G>C	uc010qym.1	-	c.170C>G	c.(169-171)ACT>AGT	p.T57S		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	Error:Variant_position_missing_in_Q8NGF1_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.206997	184.886611	212.277227	71	272	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4825678	4825678	11541	11	G	C	C	C	456	36	OR52R1	3	3
OR4P4	81300	broad.mit.edu	37	11	55406524	55406524	+	Missense_Mutation	SNP	C	A	A	rs61896975	by1000genomes	TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55406524C>A	uc010rij.1	+	c.691C>A	c.(691-693)CGC>AGC	p.R231S		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.206751	120.643766	139.533566	49	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55406524	55406524	11490	11	C	A	A	A	247	19	OR4P4	1	1
OR8J3	81168	broad.mit.edu	37	11	55904638	55904638	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55904638G>T	uc010riz.1	-	c.557C>A	c.(556-558)GCA>GAA	p.A186E		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	186	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00693)													0.180556	26.008306	32.858375	13	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55904638	55904638	11653	11	G	T	T	T	598	46	OR8J3	2	2
OR8J1	219477	broad.mit.edu	37	11	56128288	56128288	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56128288G>T	uc010rjh.1	+	c.566G>T	c.(565-567)TGC>TTC	p.C189F		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.211268	67.035035	77.937914	30	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56128288	56128288	11652	11	G	T	T	T	598	46	OR8J1	2	2
TCTN2	79867	broad.mit.edu	37	12	124192179	124192179	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124192179G>T	uc001ufp.2	+	c.2013G>T	c.(2011-2013)AAG>AAT	p.K671N	TCTN2_uc009zya.2_Missense_Mutation_p.K670N	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	tectonic family member 2 isoform 1	671	Helical; (Potential).					integral to membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)										0.105263	5.404312	14.235789	6	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124192179	124192179	16249	12	G	T	T	T	451	35	TCTN2	2	2
CACNA1C	775	broad.mit.edu	37	12	2602364	2602364	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2602364G>T	uc009zdu.1	+	c.925G>T	c.(925-927)GCA>TCA	p.A309S	CACNA1C_uc009zdv.1_Splice_Site_SNP_p.A306_splice|CACNA1C_uc001qkb.2_Missense_Mutation_p.A309S|CACNA1C_uc001qkc.2_Missense_Mutation_p.A309S|CACNA1C_uc001qke.2_Missense_Mutation_p.A309S|CACNA1C_uc001qkf.2_Missense_Mutation_p.A309S|CACNA1C_uc001qjz.2_Missense_Mutation_p.A309S|CACNA1C_uc001qkd.2_Missense_Mutation_p.A309S|CACNA1C_uc001qkg.2_Missense_Mutation_p.A309S|CACNA1C_uc009zdw.1_Missense_Mutation_p.A309S|CACNA1C_uc001qkh.2_Missense_Mutation_p.A309S|CACNA1C_uc001qkl.2_Missense_Mutation_p.A309S|CACNA1C_uc001qkn.2_Missense_Mutation_p.A309S|CACNA1C_uc001qko.2_Missense_Mutation_p.A309S|CACNA1C_uc001qkp.2_Missense_Mutation_p.A309S|CACNA1C_uc001qkr.2_Missense_Mutation_p.A309S|CACNA1C_uc001qku.2_Missense_Mutation_p.A309S|CACNA1C_uc001qkq.2_Missense_Mutation_p.A309S|CACNA1C_uc001qks.2_Missense_Mutation_p.A309S|CACNA1C_uc001qkt.2_Missense_Mutation_p.A309S|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Missense_Mutation_p.A45S|CACNA1C_uc001qkj.1_Missense_Mutation_p.A45S|CACNA1C_uc001qkk.1_Missense_Mutation_p.A45S|CACNA1C_uc001qkm.1_Missense_Mutation_p.A45S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	309	I.|Extracellular (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.053333	-7.945335	7.833743	4	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2602364	2602364	2656	12	G	T	T	T	442	34	CACNA1C	2	2
TMTC1	83857	broad.mit.edu	37	12	29669419	29669419	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:29669419C>A	uc001rjb.2	-	c.1846G>T	c.(1846-1848)GCT>TCT	p.A616S	TMTC1_uc001riz.2_Missense_Mutation_p.A373S|TMTC1_uc001rja.2_Missense_Mutation_p.A460S|TMTC1_uc001riy.2_Missense_Mutation_p.A69S	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	616						integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)													0.245902	37.299066	40.882592	15	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29669419	29669419	16801	12	C	A	A	A	338	26	TMTC1	2	2
C12orf35	55196	broad.mit.edu	37	12	32134983	32134983	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32134983C>T	uc001rks.2	+	c.1094C>T	c.(1093-1095)GCT>GTT	p.A365V		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	365										ovary(1)	1	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)											0.31746	56.380174	58.245126	20	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32134983	32134983	1726	12	C	T	T	T	364	28	C12orf35	2	2
WNT10B	7480	broad.mit.edu	37	12	49359953	49359953	+	Silent	SNP	A	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49359953A>G	uc001rss.2	-	c.1095T>C	c.(1093-1095)CAT>CAC	p.H365H	WNT10B_uc001rst.2_3'UTR	NM_003394	NP_003385	O00744	WN10B_HUMAN	wingless-type MMTV integration site family,	365					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			skin(2)	2														0.230769	25.657268	28.245663	9	30	KEEP	---	---	---	---	capture		Silent	SNP	49359953	49359953	17957	12	A	G	G	G	50	4	WNT10B	4	4
ACVRL1	94	broad.mit.edu	37	12	52314647	52314647	+	Silent	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52314647C>T	uc001rzj.2	+	c.1482C>T	c.(1480-1482)AAC>AAT	p.N494N	ACVRL1_uc001rzk.2_Silent_p.N494N|ACVRL1_uc010snm.1_Silent_p.N320N	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	494	Cytoplasmic (Potential).				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|protein phosphorylation|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)					321				0.09375	1.200091	6.509852	3	29	KEEP	---	---	---	---	capture		Silent	SNP	52314647	52314647	226	12	C	T	T	T	220	17	ACVRL1	2	2
ATP5B	506	broad.mit.edu	37	12	57039070	57039070	+	Silent	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57039070C>A	uc001slr.2	-	c.195G>T	c.(193-195)GCG>GCT	p.A65A	SNORD59B_uc001sls.1_5'Flank|SNORD59A_uc001slt.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	65					angiogenesis|ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1														0.309524	37.07239	38.422938	13	29	KEEP	---	---	---	---	capture		Silent	SNP	57039070	57039070	1167	12	C	A	A	A	288	23	ATP5B	1	1
CD27	939	broad.mit.edu	37	12	6560159	6560159	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6560159C>T	uc001qod.2	+	c.637C>T	c.(637-639)CAA>TAA	p.Q213*	LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Non-coding_Transcript|CD27_uc001qoe.2_Nonsense_Mutation_p.Q63*|LOC678655_uc009zem.1_Intron|LOC678655_uc001qof.2_Intron|TAPBPL_uc001qog.3_5'Flank|TAPBPL_uc001qoh.3_5'Flank|TAPBPL_uc001qoi.1_5'Flank	NM_001242	NP_001233	P26842	CD27_HUMAN	tumor necrosis factor receptor superfamily,	213	Cytoplasmic (Potential).				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity				0														0.238462	138.43	154.672993	62	198	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	6560159	6560159	3118	12	C	T	T	T	377	29	CD27	5	2
C12orf26	84190	broad.mit.edu	37	12	82796795	82796795	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:82796795G>C	uc001szq.2	+	c.1165G>C	c.(1165-1167)GAT>CAT	p.D389H		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	hypothetical protein LOC84190	389											0														0.11976	31.393954	55.07674	20	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82796795	82796795	1723	12	G	C	C	C	585	45	C12orf26	3	3
TMTC3	160418	broad.mit.edu	37	12	88588809	88588809	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:88588809C>T	uc001tau.2	+	c.2128C>T	c.(2128-2130)CTC>TTC	p.L710F		NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat	711	TPR 8.					integral to membrane	binding				0														0.344086	193.045478	197.038219	64	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88588809	88588809	16803	12	C	T	T	T	416	32	TMTC3	2	2
RNF17	56163	broad.mit.edu	37	13	25338423	25338423	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25338423G>A	uc001upr.2	+	c.82G>A	c.(82-84)GCT>ACT	p.A28T	RNF17_uc010tdd.1_5'UTR|RNF17_uc010aab.2_Non-coding_Transcript|RNF17_uc010tde.1_Missense_Mutation_p.A28T|RNF17_uc001ups.2_5'UTR|RNF17_uc001upq.1_Missense_Mutation_p.A28T	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	28					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)	1		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)										0.136364	4.009549	6.82727	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25338423	25338423	13938	13	G	A	A	A	494	38	RNF17	1	1
FLT1	2321	broad.mit.edu	37	13	28877390	28877390	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28877390G>T	uc001usb.3	-	c.3931C>A	c.(3931-3933)CAC>AAC	p.H1311N	FLT1_uc010aap.2_Missense_Mutation_p.H316N|FLT1_uc010aaq.2_Missense_Mutation_p.H436N|FLT1_uc001usa.3_Missense_Mutation_p.H529N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1311	Cytoplasmic (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(6)|central_nervous_system(5)|ovary(2)|urinary_tract(1)|breast(1)	15	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)					738				0.19573	114.965554	139.365807	55	226	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28877390	28877390	6183	13	G	T	T	T	611	47	FLT1	2	2
PCDH17	27253	broad.mit.edu	37	13	58208640	58208640	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58208640G>T	uc001vhq.1	+	c.1960G>T	c.(1960-1962)GAC>TAC	p.D654Y	PCDH17_uc010aec.1_Missense_Mutation_p.D654Y	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	654	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.223684	34.529858	39.900404	17	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58208640	58208640	11932	13	G	T	T	T	533	41	PCDH17	2	2
KLHL1	57626	broad.mit.edu	37	13	70535514	70535514	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:70535514G>C	uc001vip.2	-	c.743C>G	c.(742-744)GCC>GGC	p.A248G	KLHL1_uc010thm.1_Missense_Mutation_p.A187G	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	248	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)										0.174825	57.030217	71.264211	25	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70535514	70535514	8677	13	G	C	C	C	546	42	KLHL1	3	3
MARK3	4140	broad.mit.edu	37	14	103941476	103941476	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:103941476A>T	uc001ymz.3	+	c.1411A>T	c.(1411-1413)ATG>TTG	p.M471L	MARK3_uc001ymx.3_Missense_Mutation_p.M471L|MARK3_uc001ymw.3_Missense_Mutation_p.M471L|MARK3_uc001yna.3_Missense_Mutation_p.M455L|MARK3_uc001ymy.3_Missense_Mutation_p.M392L|MARK3_uc010awp.2_Missense_Mutation_p.M494L|MARK3_uc010tyb.1_Missense_Mutation_p.M266L|MARK3_uc010awq.2_Missense_Mutation_p.M1L	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	494					protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)	2		Melanoma(154;0.155)	Epithelial(46;0.241)							260				0.274194	48.562634	51.401221	17	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103941476	103941476	9697	14	A	T	T	T	104	8	MARK3	3	3
OR10G2	26534	broad.mit.edu	37	14	22102088	22102088	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:22102088A>T	uc010tmc.1	-	c.911T>A	c.(910-912)CTG>CAG	p.L304Q		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	304	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)										0.165049	35.007741	45.976632	17	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22102088	22102088	11305	14	A	T	T	T	91	7	OR10G2	3	3
CDH24	64403	broad.mit.edu	37	14	23522740	23522740	+	Silent	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23522740G>C	uc001wil.2	-	c.1191C>G	c.(1189-1191)TCC>TCG	p.S397S	CDH24_uc010akf.2_Silent_p.S397S|CDH24_uc001win.3_Silent_p.S397S	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	397	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)										0.190476	7.849581	9.685125	4	17	KEEP	---	---	---	---	capture		Silent	SNP	23522740	23522740	3238	14	G	C	C	C	496	39	CDH24	3	3
MYH6	4624	broad.mit.edu	37	14	23863422	23863422	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23863422G>A	uc001wjv.2	-	c.2540C>T	c.(2539-2541)ACG>ATG	p.T847M		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	847	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)										0.354839	60.37848	61.509558	22	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23863422	23863422	10433	14	G	A	A	A	520	40	MYH6	1	1
MDGA2	161357	broad.mit.edu	37	14	47389255	47389255	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47389255G>T	uc001wwj.3	-	c.1991C>A	c.(1990-1992)GCA>GAA	p.A664E	MDGA2_uc001wwi.3_Missense_Mutation_p.A435E|MDGA2_uc010ani.2_Missense_Mutation_p.A224E	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	664					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.205128	53.035811	62.472472	24	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47389255	47389255	9796	14	G	T	T	T	598	46	MDGA2	2	2
TBPL2	387332	broad.mit.edu	37	14	55900394	55900394	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:55900394C>T	uc001xby.2	-	c.742G>A	c.(742-744)GCC>ACC	p.A248T		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	248					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|RNA polymerase II transcription factor activity				0														0.246269	84.74101	92.575284	33	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55900394	55900394	16172	14	C	T	T	T	364	28	TBPL2	2	2
KTN1	3895	broad.mit.edu	37	14	56101267	56101267	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:56101267T>A	uc001xcb.2	+	c.1352T>A	c.(1351-1353)CTA>CAA	p.L451Q	KTN1_uc001xce.2_Missense_Mutation_p.L451Q|KTN1_uc001xcc.2_Missense_Mutation_p.L451Q|KTN1_uc001xcd.2_Missense_Mutation_p.L451Q|KTN1_uc010trb.1_Missense_Mutation_p.L451Q|KTN1_uc001xcf.1_Missense_Mutation_p.L451Q	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	451	Lumenal (Potential).|Potential.				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(2)|ovary(1)|central_nervous_system(1)	4										968				0.259542	89.386996	96.248474	34	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56101267	56101267	8908	14	T	A	A	A	689	53	KTN1	3	3
SIPA1L1	26037	broad.mit.edu	37	14	72055393	72055393	+	Silent	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:72055393G>A	uc001xms.2	+	c.804G>A	c.(802-804)CAG>CAA	p.Q268Q	SIPA1L1_uc001xmt.2_Silent_p.Q268Q|SIPA1L1_uc001xmu.2_Silent_p.Q268Q|SIPA1L1_uc001xmv.2_Silent_p.Q268Q	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	268					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)										0.08377	10.718409	77.927634	32	350	KEEP	---	---	---	---	capture		Silent	SNP	72055393	72055393	14824	14	G	A	A	A	425	33	SIPA1L1	2	2
ALDH1A3	220	broad.mit.edu	37	15	101434170	101434170	+	Silent	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:101434170C>A	uc002bwn.3	+	c.549C>A	c.(547-549)CCC>CCA	p.P183P	ALDH1A3_uc010bpb.2_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	183					oxidation-reduction process|retinal metabolic process	cytoplasm	protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)									0.243243	62.37366	69.042697	27	84	KEEP	---	---	---	---	capture		Silent	SNP	101434170	101434170	495	15	C	A	A	A	275	22	ALDH1A3	2	2
C15orf2	23742	broad.mit.edu	37	15	24922899	24922899	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24922899C>A	uc001ywo.2	+	c.1885C>A	c.(1885-1887)CAC>AAC	p.H629N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	629					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.178082	26.272929	33.364271	13	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24922899	24922899	1834	15	C	A	A	A	273	21	C15orf2	2	2
SQRDL	58472	broad.mit.edu	37	15	45965940	45965940	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45965940G>T	uc001zvt.2	+	c.595G>T	c.(595-597)GTG>TTG	p.V199L	SQRDL_uc001zvu.2_Missense_Mutation_p.V199L|SQRDL_uc001zvv.2_Missense_Mutation_p.V199L	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	sulfide dehydrogenase like precursor	199					oxidation-reduction process		oxidoreductase activity			ovary(1)	1		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)										0.209877	41.832602	48.139716	17	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45965940	45965940	15643	15	G	T	T	T	468	36	SQRDL	2	2
SLC12A1	6557	broad.mit.edu	37	15	48521502	48521502	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48521502G>A	uc001zwn.3	+	c.841G>A	c.(841-843)GAG>AAG	p.E281K	SLC12A1_uc010uew.1_Missense_Mutation_p.E87K|SLC12A1_uc010bem.2_Missense_Mutation_p.E281K|SLC12A1_uc010uex.1_Missense_Mutation_p.E281K|SLC12A1_uc001zwq.3_Missense_Mutation_p.E52K|SLC12A1_uc001zwr.3_Missense_Mutation_p.E8K	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	281					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)									0.272727	16.339716	17.364288	6	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48521502	48521502	14877	15	G	A	A	A	585	45	SLC12A1	2	2
UNC13C	440279	broad.mit.edu	37	15	54557651	54557651	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:54557651A>G	uc002ack.2	+	c.3775A>G	c.(3775-3777)ATT>GTT	p.I1259V	UNC13C_uc002acl.2_Missense_Mutation_p.I89V	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1259	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)						2691				0.1875	5.61463	7.079683	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54557651	54557651	17544	15	A	G	G	G	104	8	UNC13C	4	4
ARMC5	79798	broad.mit.edu	37	16	31473869	31473869	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31473869G>A	uc010vfn.1	+	c.1286G>A	c.(1285-1287)CGC>CAC	p.R429H	ARMC5_uc010vfo.1_Missense_Mutation_p.R366H|ARMC5_uc002ecc.2_Missense_Mutation_p.R334H|ARMC5_uc002eca.3_Missense_Mutation_p.R334H|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Missense_Mutation_p.R334H	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	334	ARM 5.						binding			pancreas(1)	1														0.173913	12.873618	17.497973	8	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31473869	31473869	972	16	G	A	A	A	494	38	ARMC5	1	1
CREBBP	1387	broad.mit.edu	37	16	3778569	3778569	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3778569G>A	uc002cvv.2	-	c.6479C>T	c.(6478-6480)GCG>GTG	p.A2160V	CREBBP_uc002cvw.2_Missense_Mutation_p.A2122V	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2160					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			ovary(6)|skin(2)|pancreas(1)|lung(1)	10		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)						748				0.318182	15.309522	15.960374	7	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3778569	3778569	4000	16	G	A	A	A	494	38	CREBBP	1	1
SHCBP1	79801	broad.mit.edu	37	16	46629573	46629573	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:46629573C>A	uc002eec.3	-	c.1355G>T	c.(1354-1356)CGT>CTT	p.R452L		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	452	PbH1 2.									ovary(1)|breast(1)	2		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)												0.136842	24.938802	37.039924	13	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46629573	46629573	14766	16	C	A	A	A	247	19	SHCBP1	1	1
CALB2	794	broad.mit.edu	37	16	71408698	71408698	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71408698G>C	uc002faa.3	+	c.222G>C	c.(220-222)AAG>AAC	p.K74N	CALB2_uc010vme.1_Non-coding_Transcript|CALB2_uc002fac.3_Missense_Mutation_p.K74N	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	74	EF-hand 2.						calcium ion binding				0		Ovarian(137;0.125)												0.274336	96.524668	101.678045	31	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71408698	71408698	2690	16	G	C	C	C	464	36	CALB2	3	3
ALDH3A2	224	broad.mit.edu	37	17	19555060	19555060	+	Silent	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:19555060C>T	uc002gwa.1	+	c.354C>T	c.(352-354)ACC>ACT	p.T118T	ALDH3A2_uc002gwb.1_Silent_p.T118T|ALDH3A2_uc010cqr.1_5'UTR|ALDH3A2_uc002gwc.1_Silent_p.T118T	NM_001031806	NP_001026976	P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3A2 isoform 1	118	Cytoplasmic.				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|oxidation-reduction process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)									0.232558	24.330136	27.145156	10	33	KEEP	---	---	---	---	capture		Silent	SNP	19555060	19555060	501	17	C	T	T	T	262	21	ALDH3A2	2	2
CCT6B	10693	broad.mit.edu	37	17	33267604	33267604	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33267604G>C	uc002hig.2	-	c.922C>G	c.(922-924)CAT>GAT	p.H308D	CCT6B_uc010ctg.2_Missense_Mutation_p.H271D|CCT6B_uc010wcc.1_Missense_Mutation_p.H263D	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	308					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)												0.039683	-16.437096	12.353672	5	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33267604	33267604	3085	17	G	C	C	C	624	48	CCT6B	3	3
GSDMA	284110	broad.mit.edu	37	17	38127821	38127821	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38127821C>G	uc002htl.1	+	c.603C>G	c.(601-603)TGC>TGG	p.C201W	GSDMA_uc002htm.1_Missense_Mutation_p.C201W	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	201					apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0														0.228814	71.283717	79.228595	27	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38127821	38127821	7096	17	C	G	G	G	350	27	GSDMA	3	3
KRT14	3861	broad.mit.edu	37	17	39739372	39739372	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39739372G>A	uc002hxf.1	-	c.1295C>T	c.(1294-1296)TCC>TTC	p.S432F	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	432	Tail.|Interaction with Type I keratins and keratin filaments.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)												0.166667	21.785263	28.736678	11	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39739372	39739372	8766	17	G	A	A	A	533	41	KRT14	2	2
KAT2A	2648	broad.mit.edu	37	17	40271354	40271354	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40271354C>T	uc002hyx.2	-	c.982G>A	c.(982-984)GTT>ATT	p.V328I		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	328					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity				0														0.234899	84.089391	93.644751	35	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40271354	40271354	8285	17	C	T	T	T	247	19	KAT2A	1	1
STAT3	6774	broad.mit.edu	37	17	40476748	40476748	+	Silent	SNP	T	A	A	rs1141123		TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40476748T>A	uc002hzl.1	-	c.1581A>T	c.(1579-1581)ACA>ACT	p.T527T	STAT3_uc002hzk.1_Silent_p.T527T|STAT3_uc002hzm.1_Silent_p.T527T|STAT3_uc010wgh.1_Silent_p.T429T|STAT3_uc002hzn.1_Silent_p.T527T	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	527					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)						793				0.26087	16.041245	17.230526	6	17	KEEP	---	---	---	---	capture		Silent	SNP	40476748	40476748	15786	17	T	A	A	A	756	59	STAT3	3	3
SLC4A1	6521	broad.mit.edu	37	17	42335048	42335048	+	Silent	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42335048C>T	uc002igf.3	-	c.1410G>A	c.(1408-1410)GTG>GTA	p.V470V	SLC4A1_uc002igg.3_Silent_p.V470V	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	470	Membrane (anion exchange).|Helical; (Potential).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)										0.344828	26.650242	27.262613	10	19	KEEP	---	---	---	---	capture		Silent	SNP	42335048	42335048	15147	17	C	T	T	T	210	17	SLC4A1	2	2
OSBPL7	114881	broad.mit.edu	37	17	45892693	45892693	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45892693C>G	uc002ilx.1	-	c.1145G>C	c.(1144-1146)CGC>CCC	p.R382P	OSBPL7_uc002ilw.1_5'UTR	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	382					lipid transport		lipid binding				0														0.277778	14.378353	15.171299	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45892693	45892693	11693	17	C	G	G	G	351	27	OSBPL7	3	3
KIF2B	84643	broad.mit.edu	37	17	51902076	51902076	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51902076C>A	uc002iua.2	+	c.1682C>A	c.(1681-1683)GCA>GAA	p.A561E		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	561					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.232704	86.544903	96.846881	37	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51902076	51902076	8609	17	C	A	A	A	325	25	KIF2B	2	2
DNAH2	146754	broad.mit.edu	37	17	7735979	7735979	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7735979G>T	uc002giu.1	+	c.12809G>T	c.(12808-12810)CGG>CTG	p.R4270L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	4270					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.257576	43.045243	46.561846	17	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7735979	7735979	4785	17	G	T	T	T	507	39	DNAH2	1	1
DSC2	1824	broad.mit.edu	37	18	28672144	28672145	+	Missense_Mutation	DNP	TC	CA	CA			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28672144_28672145TC>CA	uc002kwl.3	-	c.273_274GA>TG	c.(271-276)AAGAGA>AATGGA	p.91_92KR>NG	DSC2_uc002kwk.3_Missense_Mutation_p.91_92KR>NG|DSC2_uc010xbo.1_Missense_Mutation_p.91_92KR>NG	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	91_92					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0241)											0.193333	74.805058	87.956986	29	121	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	28672144	28672145	4950	18	TC	CA	CA	CA	700	54	DSC2	4	4
ASXL3	80816	broad.mit.edu	37	18	31324855	31324856	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31324855_31324856GG>TT	uc010dmg.1	+	c.5043_5044GG>TT	c.(5041-5046)ATGGAC>ATTTAC	p.1681_1682MD>IY	ASXL3_uc002kxq.2_Missense_Mutation_p.1388_1389MD>IY	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1681_1682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.215686	26.095403	29.900914	11	40	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	31324855	31324856	1087	18	GG	TT	TT	TT	611	47	ASXL3	2	2
COLEC12	81035	broad.mit.edu	37	18	334871	334871	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:334871C>A	uc002kkm.2	-	c.1687G>T	c.(1687-1689)GGA>TGA	p.G563*		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	563	Collagen-like 3.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)												0.25	6.51847	7.20102	3	9	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	334871	334871	3850	18	C	A	A	A	286	22	COLEC12	5	2
DCC	1630	broad.mit.edu	37	18	50705456	50705456	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:50705456C>G	uc002lfe.1	+	c.1543C>G	c.(1543-1545)CAA>GAA	p.Q515E	DCC_uc010xdr.1_Missense_Mutation_p.Q363E|DCC_uc010dpf.1_Missense_Mutation_p.Q170E	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	515	Extracellular (Potential).|Fibronectin type-III 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)										0.050633	-7.551924	9.337427	4	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50705456	50705456	4453	18	C	G	G	G	377	29	DCC	3	3
JAK3	3718	broad.mit.edu	37	19	17954675	17954675	+	Silent	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17954675C>A	uc002nhn.3	-	c.219G>T	c.(217-219)CTG>CTT	p.L73L	JAK3_uc010ebh.2_Non-coding_Transcript|JAK3_uc002nho.2_Silent_p.L73L|JAK3_uc010xpx.1_Silent_p.L73L|JAK3_uc010xpy.1_Intron	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	73	FERM.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(36)|lung(3)|ovary(3)|stomach(2)|breast(2)	46								2		364				0.307692	9.993687	10.423158	4	9	KEEP	---	---	---	---	capture		Silent	SNP	17954675	17954675	8243	19	C	A	A	A	262	21	JAK3	2	2
ZNF676	163223	broad.mit.edu	37	19	22363074	22363074	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22363074C>T	uc002nqs.1	-	c.1445G>A	c.(1444-1446)TGT>TAT	p.C482Y		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	482	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)												0.221053	92.547035	106.159103	42	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22363074	22363074	18678	19	C	T	T	T	221	17	ZNF676	2	2
ATP4A	495	broad.mit.edu	37	19	36050730	36050730	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36050730C>G	uc002oal.1	-	c.1033G>C	c.(1033-1035)GAG>CAG	p.E345Q	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	345	Helical; (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding				0	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)									0.30303	58.990448	61.267292	20	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36050730	36050730	1164	19	C	G	G	G	377	29	ATP4A	3	3
RSPH6A	81492	broad.mit.edu	37	19	46299233	46299233	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46299233A>T	uc002pdm.2	-	c.2048T>A	c.(2047-2049)GTG>GAG	p.V683E	RSPH6A_uc002pdl.2_Missense_Mutation_p.V419E	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	683	Glu-rich.					intracellular				ovary(1)|central_nervous_system(1)	2														0.23622	75.692518	83.766604	30	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46299233	46299233	14187	19	A	T	T	T	78	6	RSPH6A	3	3
LIG1	3978	broad.mit.edu	37	19	48654564	48654564	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48654564C>A	uc002pia.1	-	c.499G>T	c.(499-501)GCT>TCT	p.A167S	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Missense_Mutation_p.A136S|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	167					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)	2		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)									0.23565	163.558146	184.741138	78	253	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48654564	48654564	9107	19	C	A	A	A	338	26	LIG1	2	2
KLK5	25818	broad.mit.edu	37	19	51452188	51452188	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51452188G>T	uc002pue.2	-	c.519C>A	c.(517-519)AAC>AAA	p.N173K	KLK5_uc002puf.2_Missense_Mutation_p.N173K|KLK5_uc002pug.2_Missense_Mutation_p.N173K	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	173	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)										0.193548	12.127938	14.852599	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51452188	51452188	8721	19	G	T	T	T	516	40	KLK5	1	1
ZNRF4	148066	broad.mit.edu	37	19	5455509	5455509	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5455509C>T	uc002mca.3	+	c.7C>T	c.(7-9)CTC>TTC	p.L3F		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	3						integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)										0.193548	11.664348	14.357735	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5455509	5455509	18818	19	C	T	T	T	364	28	ZNRF4	2	2
PEG3	5178	broad.mit.edu	37	19	57335709	57335709	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57335709C>A	uc002qnu.2	-	c.315G>T	c.(313-315)TGG>TGT	p.W105C	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Missense_Mutation_p.W105C|PEG3_uc002qnv.2_Missense_Mutation_p.W105C|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Missense_Mutation_p.W105C	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	105	SCAN box.				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)										0.234043	80.642044	89.674061	33	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57335709	57335709	12141	19	C	A	A	A	286	22	PEG3	2	2
ZNF256	10172	broad.mit.edu	37	19	58452654	58452654	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58452654G>A	uc002qqu.2	-	c.1522C>T	c.(1522-1524)CAA>TAA	p.Q508*	ZNF256_uc010euj.2_Nonsense_Mutation_p.Q355*	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	508	C2H2-type 11.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|general transcriptional repressor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		NSCLC(55;1313 1552 8040 11996)								0.057692	-9.840679	11.511271	6	98	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	58452654	58452654	18390	19	G	A	A	A	585	45	ZNF256	5	2
CLEC4M	10332	broad.mit.edu	37	19	7832417	7832417	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7832417C>T	uc002mih.2	+	c.883C>T	c.(883-885)CAG>TAG	p.Q295*	CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Nonsense_Mutation_p.Q251*|CLEC4M_uc010dvt.2_Nonsense_Mutation_p.Q272*|CLEC4M_uc010dvs.2_Nonsense_Mutation_p.Q294*|CLEC4M_uc010xjx.1_Nonsense_Mutation_p.Q267*|CLEC4M_uc002mhz.2_Intron|CLEC4M_uc002mic.2_Intron|CLEC4M_uc002mia.2_Nonsense_Mutation_p.Q182*	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	318	Extracellular (Probable).|C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			pancreas(1)	1														0.246154	68.912496	76.562653	32	98	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7832417	7832417	3656	19	C	T	T	T	325	25	CLEC4M	5	2
ADAMTS10	81794	broad.mit.edu	37	19	8666020	8666020	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8666020G>T	uc002mkj.1	-	c.602C>A	c.(601-603)CCG>CAG	p.P201Q	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	201					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(1)	3														0.135135	7.405429	12.134049	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8666020	8666020	257	19	G	T	T	T	507	39	ADAMTS10	1	1
OR7E24	26648	broad.mit.edu	37	19	9361855	9361855	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9361855G>T	uc002mlb.1	+	c.136G>T	c.(136-138)GCT>TCT	p.A46S		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.188679	24.124698	28.926475	10	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9361855	9361855	11632	19	G	T	T	T	494	38	OR7E24	1	1
KIF1B	23095	broad.mit.edu	37	1	10397177	10397177	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10397177G>A	uc001aqz.2	+	c.3175G>A	c.(3175-3177)GAG>AAG	p.E1059K	KIF1B_uc001aqw.3_Missense_Mutation_p.E1013K|KIF1B_uc001aqx.3_Missense_Mutation_p.E1059K|KIF1B_uc001aqy.2_Missense_Mutation_p.E1033K|KIF1B_uc001ara.2_Missense_Mutation_p.E1019K|KIF1B_uc001arb.2_Missense_Mutation_p.E1045K	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1059					anterograde axon cargo transport|apoptosis|nerve-nerve synaptic transmission|neuromuscular synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)	2	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)										0.203463	207.799252	245.513917	94	368	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10397177	10397177	8595	1	G	A	A	A	533	41	KIF1B	2	2
VPS13D	55187	broad.mit.edu	37	1	12439542	12439542	+	Silent	SNP	A	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12439542A>G	uc001atv.2	+	c.11082A>G	c.(11080-11082)AGA>AGG	p.R3694R	VPS13D_uc001atw.2_Silent_p.R3669R|VPS13D_uc001atx.2_Silent_p.R2881R|VPS13D_uc009vnl.2_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3693					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)										0.160714	47.459576	66.026082	27	141	KEEP	---	---	---	---	capture		Silent	SNP	12439542	12439542	17759	1	A	G	G	G	154	12	VPS13D	4	4
AQP10	89872	broad.mit.edu	37	1	154293705	154293705	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154293705T>A	uc001feu.2	+	c.74T>A	c.(73-75)CTG>CAG	p.L25Q	AQP10_uc001fev.2_Missense_Mutation_p.L25Q	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	25	Cytoplasmic (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)											0.181818	27.362902	33.637518	12	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154293705	154293705	833	1	T	A	A	A	715	55	AQP10	3	3
OR6Y1	391112	broad.mit.edu	37	1	158517161	158517161	+	Silent	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158517161G>T	uc010pil.1	-	c.735C>A	c.(733-735)ACC>ACA	p.T245T		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.177489	164.605827	209.84135	82	380	KEEP	---	---	---	---	capture		Silent	SNP	158517161	158517161	11624	1	G	T	T	T	444	35	OR6Y1	2	2
ATP1A2	477	broad.mit.edu	37	1	160105634	160105634	+	Silent	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160105634C>T	uc001fvc.2	+	c.2290C>T	c.(2290-2292)CTG>TTG	p.L764L	ATP1A2_uc001fvb.2_Silent_p.L764L|ATP1A2_uc001fvd.2_Silent_p.L500L	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	764	Cytoplasmic (Potential).				ATP biosynthetic process	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|central_nervous_system(2)	4	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)											0.158416	96.656419	130.317915	48	255	KEEP	---	---	---	---	capture		Silent	SNP	160105634	160105634	1148	1	C	T	T	T	311	24	ATP1A2	2	2
SELE	6401	broad.mit.edu	37	1	169699641	169699641	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169699641G>T	uc001ggm.3	-	c.647C>A	c.(646-648)CCA>CAA	p.P216Q	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	216	Sushi 1.|Extracellular (Potential).				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)	3	all_hematologic(923;0.208)													0.181102	97.641715	121.884186	46	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169699641	169699641	14499	1	G	T	T	T	611	47	SELE	2	2
TNN	63923	broad.mit.edu	37	1	175053017	175053017	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175053017G>T	uc001gkl.1	+	c.1180G>T	c.(1180-1182)GCT>TCT	p.A394S	TNN_uc010pmx.1_Missense_Mutation_p.A394S	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	394	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)						470				0.315789	73.309799	76.181918	30	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175053017	175053017	16864	1	G	T	T	T	442	34	TNN	2	2
ACBD6	84320	broad.mit.edu	37	1	180257631	180257631	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:180257631T>A	uc001gog.2	-	c.716A>T	c.(715-717)GAT>GTT	p.D239V		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	acyl-coenzyme A binding domain containing 6	239	ANK 2.					cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1														0.108108	3.875896	9.506873	4	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180257631	180257631	127	1	T	A	A	A	650	50	ACBD6	3	3
RGL1	23179	broad.mit.edu	37	1	183869311	183869311	+	Silent	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183869311C>T	uc001gqm.2	+	c.1363C>T	c.(1363-1365)CTG>TTG	p.L455L	RGL1_uc010pof.1_Silent_p.L225L|RGL1_uc010pog.1_Silent_p.L418L|RGL1_uc010poh.1_Silent_p.L418L|RGL1_uc001gqo.2_Silent_p.L420L|RGL1_uc010poi.1_Intron	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	420	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			ovary(3)|breast(3)|lung(1)	7										871				0.215909	191.401201	217.547855	76	276	KEEP	---	---	---	---	capture		Silent	SNP	183869311	183869311	13749	1	C	T	T	T	311	24	RGL1	2	2
CFHR5	81494	broad.mit.edu	37	1	196965270	196965270	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196965270G>T	uc001gts.3	+	c.909G>T	c.(907-909)ATG>ATT	p.M303I		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	303	Sushi 5.				complement activation, alternative pathway	extracellular region				breast(1)	1														0.169492	70.553554	94.965468	40	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196965270	196965270	3421	1	G	T	T	T	585	45	CFHR5	2	2
F13B	2165	broad.mit.edu	37	1	197009738	197009738	+	Silent	SNP	T	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197009738T>A	uc001gtt.1	-	c.1866A>T	c.(1864-1866)CCA>CCT	p.P622P		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	622	Sushi 10.				blood coagulation	extracellular region				central_nervous_system(1)	1														0.139896	48.832108	72.968366	27	166	KEEP	---	---	---	---	capture		Silent	SNP	197009738	197009738	5535	1	T	A	A	A	704	55	F13B	3	3
CACNA1S	779	broad.mit.edu	37	1	201022390	201022390	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201022390C>T	uc001gvv.2	-	c.3808G>A	c.(3808-3810)GTG>ATG	p.V1270M		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1270	IV.|Helical; Name=S5 of repeat IV; (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)	4					Magnesium Sulfate(DB00653)|Verapamil(DB00661)									0.034247	-24.736558	9.734326	5	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201022390	201022390	2663	1	C	T	T	T	247	19	CACNA1S	1	1
HEATR1	55127	broad.mit.edu	37	1	236762789	236762789	+	Silent	SNP	T	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236762789T>A	uc001hyd.1	-	c.495A>T	c.(493-495)CCA>CCT	p.P165P		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	165					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)	2	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)											0.107527	9.4814	23.692059	10	83	KEEP	---	---	---	---	capture		Silent	SNP	236762789	236762789	7310	1	T	A	A	A	704	55	HEATR1	3	3
RYR2	6262	broad.mit.edu	37	1	237948105	237948105	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237948105G>C	uc001hyl.1	+	c.13093G>C	c.(13093-13095)GAC>CAC	p.D4365H	RYR2_uc010pya.1_Missense_Mutation_p.D780H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4365					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)											0.330396	240.992269	246.809394	75	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237948105	237948105	14249	1	G	C	C	C	481	37	RYR2	3	3
ZP4	57829	broad.mit.edu	37	1	238049185	238049185	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238049185G>T	uc001hym.2	-	c.841C>A	c.(841-843)CTC>ATC	p.L281I	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	281	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.370968	68.107714	69.015199	23	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238049185	238049185	18822	1	G	T	T	T	442	34	ZP4	2	2
OR2W3	343171	broad.mit.edu	37	1	248059047	248059047	+	Silent	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248059047C>A	uc001idp.1	+	c.159C>A	c.(157-159)CCC>CCA	p.P53P	OR2W3_uc010pzb.1_Silent_p.P53P	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.30131	334.653186	350.82766	138	320	KEEP	---	---	---	---	capture		Silent	SNP	248059047	248059047	11439	1	C	A	A	A	275	22	OR2W3	2	2
OR2T27	403239	broad.mit.edu	37	1	248813308	248813308	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248813308C>A	uc010pzo.1	-	c.878G>T	c.(877-879)AGG>ATG	p.R293M		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.529412	165.741654	165.817454	54	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248813308	248813308	11427	1	C	A	A	A	312	24	OR2T27	2	2
ARID1A	8289	broad.mit.edu	37	1	27102066	27102066	+	Splice_Site_SNP	SNP	A	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27102066A>G	uc001bmv.1	+	c.4994_splice	c.e19-2	p.G1665_splice	ARID1A_uc001bmt.1_Splice_Site_SNP_p.G1664_splice|ARID1A_uc001bmu.1_Splice_Site_SNP_p.G1448_splice|ARID1A_uc001bmx.1_Splice_Site_SNP_p.G511_splice|ARID1A_uc009vsm.1_Splice_Site_SNP|ARID1A_uc009vsn.1_Splice_Site_SNP	NM_006015	NP_006006			AT rich interactive domain 1A isoform a						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding|transcription activator activity			ovary(124)|endometrium(3)|kidney(3)|central_nervous_system(2)|pancreas(2)|lung(1)|skin(1)	136		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)						478				0.145833	11.093589	16.883021	7	41	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	27102066	27102066	928	1	A	G	G	G	91	7	ARID1A	5	4
CSMD2	114784	broad.mit.edu	37	1	34209071	34209071	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34209071G>T	uc001bxm.1	-	c.1983C>A	c.(1981-1983)AAC>AAA	p.N661K	CSMD2_uc001bxn.1_Missense_Mutation_p.N621K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	621	Extracellular (Potential).|CUB 4.					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.258216	146.855105	158.124104	55	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34209071	34209071	4086	1	G	T	T	T	516	40	CSMD2	1	1
MPL	4352	broad.mit.edu	37	1	43805736	43805736	+	Silent	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43805736C>A	uc001ciw.2	+	c.792C>A	c.(790-792)TCC>TCA	p.S264S	MPL_uc001civ.2_Silent_p.S264S|MPL_uc009vwr.2_Silent_p.S257S	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	264	Extracellular (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(359)|pancreas(1)	360	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				NSCLC(52;534 1204 10016 41452 44427)				169				0.327869	50.679595	52.282153	20	41	KEEP	---	---	---	---	capture		Silent	SNP	43805736	43805736	10122	1	C	A	A	A	275	22	MPL	2	2
DNAJC6	9829	broad.mit.edu	37	1	65860662	65860662	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:65860662C>T	uc001dce.1	+	c.1985C>T	c.(1984-1986)GCT>GTT	p.A662V	DNAJC6_uc001dcd.1_Missense_Mutation_p.A605V|DNAJC6_uc010opc.1_Missense_Mutation_p.A592V	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	605	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3														0.229651	373.53006	419.61577	158	530	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65860662	65860662	4836	1	C	T	T	T	364	28	DNAJC6	2	2
C1orf173	127254	broad.mit.edu	37	1	75072483	75072483	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75072483C>G	uc001dgg.2	-	c.1291G>C	c.(1291-1293)GTG>CTG	p.V431L	C1orf173_uc001dgi.3_Missense_Mutation_p.V225L	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	431	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.211165	241.608129	273.384464	87	325	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75072483	75072483	2081	1	C	G	G	G	260	20	C1orf173	3	3
JPH2	57158	broad.mit.edu	37	20	42788290	42788290	+	Silent	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42788290G>A	uc002xli.1	-	c.1137C>T	c.(1135-1137)ATC>ATT	p.I379I		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	379	Ala-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)											0.148148	4.571577	7.807142	4	23	KEEP	---	---	---	---	capture		Silent	SNP	42788290	42788290	8265	20	G	A	A	A	473	37	JPH2	1	1
ELMO2	63916	broad.mit.edu	37	20	45000483	45000483	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45000483C>A	uc010zxr.1	-	c.1578G>T	c.(1576-1578)GAG>GAT	p.E526D	ELMO2_uc010zxq.1_Missense_Mutation_p.E246D|ELMO2_uc002xrs.1_Missense_Mutation_p.E261D|ELMO2_uc002xrt.1_Missense_Mutation_p.E514D|ELMO2_uc002xru.1_Missense_Mutation_p.E514D|ELMO2_uc010zxs.1_Missense_Mutation_p.E331D|ELMO2_uc002xrv.1_Missense_Mutation_p.E233D	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	514					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.062937	-10.648148	17.813829	9	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45000483	45000483	5258	20	C	A	A	A	415	32	ELMO2	2	2
ZC3H7B	23264	broad.mit.edu	37	22	41739445	41739445	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:41739445C>T	uc003azw.2	+	c.1324C>T	c.(1324-1326)CGT>TGT	p.R442C	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	458					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1														0.132075	8.889849	15.862331	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41739445	41739445	18161	22	C	T	T	T	299	23	ZC3H7B	1	1
NMS	129521	broad.mit.edu	37	2	101098755	101098755	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:101098755A>G	uc002tan.1	+	c.431A>G	c.(430-432)AAC>AGC	p.N144S		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	neuromedin S precursor	144					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				ovary(1)	1														0.152074	70.815479	96.037361	33	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101098755	101098755	10905	2	A	G	G	G	26	2	NMS	4	4
LCT	3938	broad.mit.edu	37	2	136566483	136566483	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136566483C>T	uc002tuu.1	-	c.3434G>A	c.(3433-3435)CGA>CAA	p.R1145Q		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1145	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.26087	46.280201	49.812128	18	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136566483	136566483	9017	2	C	T	T	T	403	31	LCT	1	1
SCN2A	6326	broad.mit.edu	37	2	166179748	166179748	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166179748A>G	uc002udc.2	+	c.1754A>G	c.(1753-1755)AAG>AGG	p.K585R	SCN2A_uc002udd.2_Missense_Mutation_p.K585R|SCN2A_uc002ude.2_Missense_Mutation_p.K585R	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	585					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)									0.254902	114.247861	122.594423	39	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166179748	166179748	14398	2	A	G	G	G	39	3	SCN2A	4	4
RAPGEF4	11069	broad.mit.edu	37	2	173891853	173891853	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:173891853G>C	uc002uhv.3	+	c.2424G>C	c.(2422-2424)AAG>AAC	p.K808N	RAPGEF4_uc002uhw.3_Missense_Mutation_p.K664N	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	808	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.194)											0.076923	4.902886	38.249611	14	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173891853	173891853	13506	2	G	C	C	C	425	33	RAPGEF4	3	3
SMC6	79677	broad.mit.edu	37	2	17865019	17865019	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:17865019T>A	uc002rco.2	-	c.2690A>T	c.(2689-2691)GAA>GTA	p.E897V	SMC6_uc010exo.2_Missense_Mutation_p.E897V|SMC6_uc002rcn.2_Missense_Mutation_p.E897V	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	897	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|kidney(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.253968	112.515579	122.897351	48	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17865019	17865019	15285	2	T	A	A	A	806	62	SMC6	3	3
TTN	7273	broad.mit.edu	37	2	179449101	179449101	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179449101T>G	uc010zfg.1	-	c.57473A>C	c.(57472-57474)GAA>GCA	p.E19158A	TTN_uc010zfh.1_Missense_Mutation_p.E12853A|TTN_uc010zfi.1_Missense_Mutation_p.E12786A|TTN_uc010zfj.1_Missense_Mutation_p.E12661A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:Variant_position_missing_in_Q4ZG20_after_alignment										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				0.031111	-38.048361	16.10487	7	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179449101	179449101	17290	2	T	G	G	G	806	62	TTN	4	4
TTN	7273	broad.mit.edu	37	2	179481280	179481280	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179481280C>A	uc010zfg.1	-	c.40534G>T	c.(40534-40536)GAT>TAT	p.D13512Y	TTN_uc010zfh.1_Missense_Mutation_p.D7207Y|TTN_uc010zfi.1_Missense_Mutation_p.D7140Y|TTN_uc010zfj.1_Missense_Mutation_p.D7015Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3172										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				0.037618	-50.49461	23.338094	12	307	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179481280	179481280	17290	2	C	A	A	A	377	29	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179575543	179575543	+	Silent	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179575543C>T	uc010zfg.1	-	c.24549G>A	c.(24547-24549)AAG>AAA	p.K8183K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.K4844K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3176										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)						p.K8183N(A375-Tumor)|p.K8183N(MDAMB361-Tumor)	8722				0.247788	77.546697	84.085132	28	85	KEEP	---	---	---	---	capture		Silent	SNP	179575543	179575543	17290	2	C	T	T	T	311	24	TTN	2	2
MYT1L	23040	broad.mit.edu	37	2	1926086	1926086	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1926086G>C	uc002qxe.2	-	c.1455C>G	c.(1453-1455)AGC>AGG	p.S485R	MYT1L_uc002qxd.2_Missense_Mutation_p.S485R|MYT1L_uc010ewl.1_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	485					cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)										0.242424	41.173232	45.162661	16	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1926086	1926086	10502	2	G	C	C	C	542	42	MYT1L	3	3
KIF1A	547	broad.mit.edu	37	2	241683446	241683446	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:241683446T>A	uc010fzk.2	-	c.3497A>T	c.(3496-3498)GAG>GTG	p.E1166V	KIF1A_uc002vzy.2_Missense_Mutation_p.E1065V|KIF1A_uc002vzz.1_Missense_Mutation_p.E1166V	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1065					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)										0.282051	28.112042	29.774508	11	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241683446	241683446	8594	2	T	A	A	A	702	54	KIF1A	3	3
PEX13	5194	broad.mit.edu	37	2	61259019	61259019	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:61259019G>C	uc002sau.3	+	c.558G>C	c.(556-558)AGG>AGC	p.R186S		NM_002618	NP_002609	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	186	Targeting to peroxisomes.|Lumenal (Potential).|Interaction with PEX19.				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding				0			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)											0.247059	127.777895	137.668206	42	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61259019	61259019	12163	2	G	C	C	C	529	41	PEX13	3	3
EHBP1	23301	broad.mit.edu	37	2	63101642	63101642	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:63101642G>T	uc002sby.2	+	c.1265G>T	c.(1264-1266)GGA>GTA	p.G422V	EHBP1_uc010fcp.2_Missense_Mutation_p.G387V|EHBP1_uc002sbz.2_Missense_Mutation_p.G387V|EHBP1_uc002scb.2_Missense_Mutation_p.G387V	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	422						cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)							379				0.054348	-49.997731	46.355461	25	435	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63101642	63101642	5164	2	G	T	T	T	533	41	EHBP1	2	2
C2orf78	388960	broad.mit.edu	37	2	74043580	74043580	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74043580C>T	uc002sjr.1	+	c.2230C>T	c.(2230-2232)CGT>TGT	p.R744C		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	744										ovary(2)	2														0.205128	103.672812	122.475622	48	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74043580	74043580	2285	2	C	T	T	T	247	19	C2orf78	1	1
C2orf78	388960	broad.mit.edu	37	2	74044001	74044001	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74044001G>C	uc002sjr.1	+	c.2651G>C	c.(2650-2652)AGA>ACA	p.R884T		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	884	Potential.									ovary(2)	2														0.214286	16.93422	19.0448	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74044001	74044001	2285	2	G	C	C	C	429	33	C2orf78	3	3
DOK1	1796	broad.mit.edu	37	2	74783996	74783996	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74783996C>T	uc002sms.2	+	c.1201C>T	c.(1201-1203)CCC>TCC	p.P401S	LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_Missense_Mutation_p.P262S|DOK1_uc010ffo.2_Missense_Mutation_p.P262S|DOK1_uc002smt.2_Missense_Mutation_p.P187S|DOK1_uc002smu.2_Missense_Mutation_p.P187S|DOK1_uc010yrz.1_Missense_Mutation_p.P390S|DOK1_uc002smv.2_Missense_Mutation_p.P262S|DOK1_uc002smw.1_Missense_Mutation_p.P187S	NM_001381	NP_001372	Q99704	DOK1_HUMAN	docking protein 1	401	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding				0						Esophageal Squamous(36;520 860 12502 33616 51270)								0.209581	85.661743	98.685675	35	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74783996	74783996	4880	2	C	T	T	T	286	22	DOK1	2	2
TCF7L1	83439	broad.mit.edu	37	2	85534779	85534779	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:85534779G>C	uc002soy.2	+	c.1272G>C	c.(1270-1272)AAG>AAC	p.K424N		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	HMG-box transcription factor TCF-3	424	Nuclear localization signal (Potential).				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2														0.192771	36.046743	43.369645	16	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85534779	85534779	16223	2	G	C	C	C	425	33	TCF7L1	3	3
IQCB1	9657	broad.mit.edu	37	3	121509047	121509047	+	Silent	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121509047C>T	uc010hre.1	-	c.1002G>A	c.(1000-1002)AAG>AAA	p.K334K	IQCB1_uc003eek.2_Silent_p.K201K|IQCB1_uc010hrf.1_Non-coding_Transcript	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	334	IQ 2.				maintenance of organ identity|photoreceptor cell maintenance	photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)										0.09828	36.288433	102.015553	40	367	KEEP	---	---	---	---	capture		Silent	SNP	121509047	121509047	8104	3	C	T	T	T	415	32	IQCB1	2	2
TMEM22	80723	broad.mit.edu	37	3	136573910	136573910	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:136573910C>A	uc003erf.3	+	c.608C>A	c.(607-609)ACA>AAA	p.T203K	TMEM22_uc003erg.3_Missense_Mutation_p.T203K|TMEM22_uc010hub.2_Missense_Mutation_p.T203K	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN	transmembrane protein 22	203	DUF6 1.|Helical; (Potential).					Golgi apparatus|integral to membrane				ovary(1)	1														0.216867	85.422838	97.688135	36	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136573910	136573910	16679	3	C	A	A	A	221	17	TMEM22	2	2
IGSF10	285313	broad.mit.edu	37	3	151163928	151163928	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151163928C>A	uc011bod.1	-	c.3841G>T	c.(3841-3843)GGA>TGA	p.G1281*		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1281					cell differentiation|multicellular organismal development|ossification	extracellular region				ovary(4)|central_nervous_system(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)											0.233202	140.885704	157.380037	59	194	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	151163928	151163928	7898	3	C	A	A	A	273	21	IGSF10	5	2
KPNA4	3840	broad.mit.edu	37	3	160225999	160225999	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160225999T>C	uc003fdn.2	-	c.1268A>G	c.(1267-1269)AAA>AGA	p.K423R		NM_002268	NP_002259	O00629	IMA4_HUMAN	karyopherin alpha 4	423	ARM 9.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding				0			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)											0.311475	63.716056	65.639212	19	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160225999	160225999	8746	3	T	C	C	C	832	64	KPNA4	4	4
WDR49	151790	broad.mit.edu	37	3	167277872	167277872	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167277872T>A	uc003fev.1	-	c.631A>T	c.(631-633)AGC>TGC	p.S211C	WDR49_uc003feu.1_Missense_Mutation_p.S36C|WDR49_uc011bpd.1_Missense_Mutation_p.S264C|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	211	WD 4.									large_intestine(1)|ovary(1)	2														0.203125	152.891961	179.081806	65	255	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167277872	167277872	17875	3	T	A	A	A	715	55	WDR49	3	3
PLCL2	23228	broad.mit.edu	37	3	17053164	17053164	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:17053164G>T	uc011awc.1	+	c.2302G>T	c.(2302-2304)GGT>TGT	p.G768C	PLCL2_uc011awd.1_Missense_Mutation_p.G650C	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	776	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)	2														0.223881	34.991467	39.686463	15	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17053164	17053164	12466	3	G	T	T	T	455	35	PLCL2	2	2
PEX5L	51555	broad.mit.edu	37	3	179525576	179525576	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:179525576C>T	uc003fki.1	-	c.1562G>A	c.(1561-1563)GGA>GAA	p.G521E	PEX5L_uc011bqd.1_Missense_Mutation_p.G478E|PEX5L_uc011bqe.1_Missense_Mutation_p.G329E|PEX5L_uc011bqf.1_Missense_Mutation_p.G413E|PEX5L_uc003fkj.1_Missense_Mutation_p.G486E|PEX5L_uc010hxd.1_Missense_Mutation_p.G519E|PEX5L_uc011bqg.1_Missense_Mutation_p.G497E|PEX5L_uc011bqh.1_Missense_Mutation_p.G462E	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	521	TPR 4.				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)							648				0.261628	108.181713	117.041706	45	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179525576	179525576	12171	3	C	T	T	T	390	30	PEX5L	2	2
EHHADH	1962	broad.mit.edu	37	3	184910074	184910074	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184910074C>A	uc003fpf.2	-	c.2112G>T	c.(2110-2112)CAG>CAT	p.Q704H	EHHADH_uc011brs.1_Missense_Mutation_p.Q608H	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	704						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)									0.218935	79.925057	92.201894	37	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184910074	184910074	5171	3	C	A	A	A	311	24	EHHADH	2	2
XIRP1	165904	broad.mit.edu	37	3	39229587	39229587	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:39229587C>G	uc003cjk.1	-	c.1350G>C	c.(1348-1350)TTG>TTC	p.L450F	XIRP1_uc003cji.2_Missense_Mutation_p.L450F|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	450	Xin 10.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)										0.241379	186.206499	203.900976	70	220	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39229587	39229587	18010	3	C	G	G	G	272	21	XIRP1	3	3
CYP8B1	1582	broad.mit.edu	37	3	42916064	42916064	+	Silent	SNP	C	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42916064C>G	uc003cmh.2	-	c.1245G>C	c.(1243-1245)CGG>CGC	p.R415R	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Silent_p.R415R	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	415					bile acid biosynthetic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)										0.15566	69.359896	93.350184	33	179	KEEP	---	---	---	---	capture		Silent	SNP	42916064	42916064	4363	3	C	G	G	G	379	30	CYP8B1	3	3
ALS2CL	259173	broad.mit.edu	37	3	46722809	46722809	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:46722809G>A	uc003cqa.1	-	c.1363C>T	c.(1363-1365)CAG>TAG	p.Q455*	ALS2CL_uc003cpz.1_5'UTR|ALS2CL_uc003cqb.1_Nonsense_Mutation_p.Q455*|ALS2CL_uc003cqc.1_Non-coding_Transcript	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	455					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)										0.190909	41.707771	51.545045	21	89	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46722809	46722809	554	3	G	A	A	A	611	47	ALS2CL	5	2
COL7A1	1294	broad.mit.edu	37	3	48604138	48604138	+	Silent	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48604138C>A	uc003ctz.2	-	c.8259G>T	c.(8257-8259)GTG>GTT	p.V2753V	UCN2_uc003cty.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2753	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.309735	93.884124	97.528288	35	78	KEEP	---	---	---	---	capture		Silent	SNP	48604138	48604138	3842	3	C	A	A	A	262	21	COL7A1	2	2
STAB1	23166	broad.mit.edu	37	3	52529465	52529465	+	Silent	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52529465C>T	uc003dej.2	+	c.36C>T	c.(34-36)CTC>CTT	p.L12L	STAB1_uc003dei.1_Silent_p.L12L	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	12					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)										0.333333	6.412367	6.638614	3	6	KEEP	---	---	---	---	capture		Silent	SNP	52529465	52529465	15755	3	C	T	T	T	379	30	STAB1	2	2
CACNA1D	776	broad.mit.edu	37	3	53781379	53781379	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:53781379G>T	uc003dgu.3	+	c.3278G>T	c.(3277-3279)CGT>CTT	p.R1093L	CACNA1D_uc003dgv.3_Missense_Mutation_p.R1073L|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1073L|CACNA1D_uc003dgw.3_Missense_Mutation_p.R740L|CACNA1D_uc003dgx.1_Missense_Mutation_p.R221L	NM_000720	NP_000711	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1073	Extracellular (Potential).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|liver(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)									0.189189	66.623943	79.990252	28	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53781379	53781379	2657	3	G	T	T	T	520	40	CACNA1D	1	1
PDZRN3	23024	broad.mit.edu	37	3	73433080	73433080	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:73433080G>T	uc003dpl.1	-	c.2637C>A	c.(2635-2637)CAC>CAA	p.H879Q	PDZRN3_uc011bgh.1_Missense_Mutation_p.H536Q|PDZRN3_uc010hoe.1_Missense_Mutation_p.H577Q|PDZRN3_uc011bgf.1_Missense_Mutation_p.H596Q|PDZRN3_uc011bgg.1_Missense_Mutation_p.H599Q	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	879							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|pancreas(2)|large_intestine(1)	5		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)										0.307692	42.488752	44.198577	16	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73433080	73433080	12130	3	G	T	T	T	464	36	PDZRN3	2	2
EPHA6	285220	broad.mit.edu	37	3	96945208	96945208	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:96945208G>T	uc010how.1	+	c.1215G>T	c.(1213-1215)CAG>CAT	p.Q405H	EPHA6_uc003drp.1_Missense_Mutation_p.Q405H	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	310	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.214953	104.919192	120.983155	46	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96945208	96945208	5364	3	G	T	T	T	464	36	EPHA6	2	2
DCBLD2	131566	broad.mit.edu	37	3	98518498	98518498	+	Silent	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98518498G>A	uc003dte.2	-	c.2088C>T	c.(2086-2088)ATC>ATT	p.I696I	DCBLD2_uc003dtd.2_Silent_p.I682I	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	682	Cytoplasmic (Potential).				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3														0.089506	8.144038	63.256053	29	295	KEEP	---	---	---	---	capture		Silent	SNP	98518498	98518498	4452	3	G	A	A	A	577	45	DCBLD2	2	2
MAD2L1	4085	broad.mit.edu	37	4	120981278	120981278	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:120981278C>T	uc003idl.2	-	c.613G>A	c.(613-615)GAC>AAC	p.D205N	MAD2L1_uc003idm.2_3'UTR	NM_002358	NP_002349	Q13257	MD2L1_HUMAN	MAD2-like 1	205	Required for assuming the closed conformation and for interaction with CDC20.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity				0														0.161972	45.027774	60.4627	23	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120981278	120981278	9525	4	C	T	T	T	377	29	MAD2L1	2	2
RAB28	9364	broad.mit.edu	37	4	13462328	13462328	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:13462328T>C	uc003gmu.2	-	c.386A>G	c.(385-387)AAT>AGT	p.N129S	RAB28_uc003gmt.2_Missense_Mutation_p.N129S|RAB28_uc011bwz.1_Missense_Mutation_p.N129S|RAB28_uc003gmv.2_Intron	NM_001017979	NP_001017979	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family isoform 1	129	GTP.				small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			ovary(1)|skin(1)	2														0.256	185.088926	198.582945	64	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13462328	13462328	13375	4	T	C	C	C	676	52	RAB28	4	4
TDO2	6999	broad.mit.edu	37	4	156841072	156841072	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156841072C>G	uc003ipf.1	+	c.1151C>G	c.(1150-1152)ACC>AGC	p.T384S		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	384					oxidation-reduction process|tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	Colon(57;928 1036 2595 6946 26094)								0.220588	34.729428	39.596297	15	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156841072	156841072	16253	4	C	G	G	G	234	18	TDO2	3	3
SLIT2	9353	broad.mit.edu	37	4	20255448	20255448	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20255448G>T	uc003gpr.1	+	c.10G>T	c.(10-12)GTT>TTT	p.V4F	SLIT2_uc003gps.1_Missense_Mutation_p.V4F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	4					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.159091	12.34263	17.185529	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20255448	20255448	15238	4	G	T	T	T	520	40	SLIT2	1	1
GABRA2	2555	broad.mit.edu	37	4	46390669	46390669	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46390669C>A	uc003gxc.3	-	c.55G>T	c.(55-57)GTG>TTG	p.V19L	GABRA2_uc010igc.2_Missense_Mutation_p.V19L|GABRA2_uc011bzc.1_5'UTR|GABRA2_uc003gxe.2_Missense_Mutation_p.V19L|GABRA2_uc010igd.1_Missense_Mutation_p.V19L	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	19					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.207547	50.081543	58.491573	22	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46390669	46390669	6412	4	C	A	A	A	234	18	GABRA2	2	2
MATR3	9782	broad.mit.edu	37	5	138643962	138643962	+	Silent	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:138643962G>A	uc003ldw.2	+	c.858G>A	c.(856-858)CCG>CCA	p.P286P	MATR3_uc003lds.2_Silent_p.P286P|MATR3_uc010jfb.2_Silent_p.P286P|MATR3_uc003ldt.2_Intron|MATR3_uc003ldu.2_Silent_p.P286P|MATR3_uc003ldx.2_Silent_p.P286P|MATR3_uc010jfc.2_Silent_p.P286P|MATR3_uc003ldy.2_Intron|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_Silent_p.P286P|MATR3_uc003lea.2_Silent_p.P286P	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	286						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)											0.241299	260.884428	287.215067	104	327	KEEP	---	---	---	---	capture		Silent	SNP	138643962	138643962	9721	5	G	A	A	A	470	37	MATR3	1	1
DND1	373863	broad.mit.edu	37	5	140052312	140052312	+	Silent	SNP	T	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140052312T>G	uc003lgt.2	-	c.322A>C	c.(322-324)AGG>CGG	p.R108R		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	dead end homolog 1	108	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.6	7.725006	7.769287	3	2	KEEP	---	---	---	---	capture		Silent	SNP	140052312	140052312	4849	5	T	G	G	G	700	54	DND1	4	4
DND1	373863	broad.mit.edu	37	5	140052331	140052331	+	Silent	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140052331G>T	uc003lgt.2	-	c.303C>A	c.(301-303)GCC>GCA	p.A101A		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	dead end homolog 1	101	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.5	9.124813	9.124813	3	3	KEEP	---	---	---	---	capture		Silent	SNP	140052331	140052331	4849	5	G	T	T	T	444	35	DND1	2	2
PCDHA10	56139	broad.mit.edu	37	5	140236705	140236705	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140236705G>T	uc003lhx.2	+	c.1072G>T	c.(1072-1074)GTG>TTG	p.V358L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.V358L|PCDHA10_uc011dad.1_Missense_Mutation_p.V358L	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	358	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|breast(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.5625	26.570027	26.62365	9	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140236705	140236705	11940	5	G	T	T	T	468	36	PCDHA10	2	2
PCDHB2	56133	broad.mit.edu	37	5	140476015	140476015	+	Silent	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140476015G>T	uc003lil.2	+	c.1641G>T	c.(1639-1641)GCG>GCT	p.A547A	PCDHB2_uc003lim.1_Silent_p.A208A	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	547	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.25	20.488061	22.303895	8	24	KEEP	---	---	---	---	capture		Silent	SNP	140476015	140476015	11962	5	G	T	T	T	483	38	PCDHB2	1	1
PCDHGB1	56104	broad.mit.edu	37	5	140730889	140730889	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140730889G>T	uc003ljo.1	+	c.1062G>T	c.(1060-1062)GAG>GAT	p.E354D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.E354D	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	354	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.25	9.692248	10.601444	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140730889	140730889	11982	5	G	T	T	T	451	35	PCDHGB1	2	2
CSF1R	1436	broad.mit.edu	37	5	149460352	149460352	+	Silent	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149460352G>T	uc003lrl.2	-	c.285C>A	c.(283-285)GCC>GCA	p.A95A	CSF1R_uc011dcd.1_5'UTR|CSF1R_uc010jhc.2_Non-coding_Transcript|CSF1R_uc003lrm.2_Silent_p.A95A|CSF1R_uc011dce.1_Silent_p.A95A|CSF1R_uc011dcf.1_Silent_p.A95A	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	95	Ig-like C2-type 1.|Extracellular (Potential).				cell proliferation|multicellular organismal development|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)				p.A95A(D341MED-Tumor)	592				0.25	24.818428	27.105193	10	30	KEEP	---	---	---	---	capture		Silent	SNP	149460352	149460352	4073	5	G	T	T	T	496	39	CSF1R	1	1
HAVCR1	26762	broad.mit.edu	37	5	156479602	156479602	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156479602G>T	uc010jij.1	-	c.443C>A	c.(442-444)ACC>AAC	p.T148N	HAVCR1_uc011ddl.1_5'UTR|HAVCR1_uc003lwi.2_Missense_Mutation_p.T148N|HAVCR1_uc011ddm.1_Missense_Mutation_p.T148N	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	148	Extracellular (Potential).|11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.|2.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.240288	431.001276	473.710872	167	528	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156479602	156479602	7255	5	G	T	T	T	572	44	HAVCR1	2	2
CDH9	1007	broad.mit.edu	37	5	26906096	26906096	+	Silent	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26906096G>A	uc003jgs.1	-	c.783C>T	c.(781-783)GTC>GTT	p.V261V	CDH9_uc010iug.2_Silent_p.V261V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	261	Extracellular (Potential).|Cadherin 2.				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)								0.236364	213.5236	237.996381	91	294	KEEP	---	---	---	---	capture		Silent	SNP	26906096	26906096	3246	5	G	A	A	A	574	45	CDH9	2	2
ZFR	51663	broad.mit.edu	37	5	32387678	32387678	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32387678C>G	uc003jhr.1	-	c.2476G>C	c.(2476-2478)GAA>CAA	p.E826Q	ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	826	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)										0.092251	25.877368	71.219726	25	246	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32387678	32387678	18249	5	C	G	G	G	416	32	ZFR	3	3
GPX8	493869	broad.mit.edu	37	5	54456954	54456954	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54456954G>A	uc003jpq.2	+	c.337G>A	c.(337-339)GAA>AAA	p.E113K	CDC20B_uc003jpn.1_Intron|CDC20B_uc010ivu.1_Intron|CDC20B_uc003jpo.1_Intron|CDC20B_uc010ivv.1_Intron|CDC20B_uc003jpp.2_Intron|GPX8_uc003jpr.2_Intron|GPX8_uc003jps.2_Non-coding_Transcript|GPX8_uc003jpt.2_Missense_Mutation_p.E62K	NM_001008397	NP_001008398	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8	113					oxidation-reduction process|response to oxidative stress	integral to membrane	glutathione peroxidase activity				0					Glutathione(DB00143)									0.047059	-9.863081	8.707956	4	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54456954	54456954	7022	5	G	A	A	A	429	33	GPX8	2	2
FKSG83	83954	broad.mit.edu	37	6	27293323	27293323	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:27293323G>A	uc010jqt.2	+	c.262G>A	c.(262-264)GAA>AAA	p.E88K	FKSG83_uc010jqs.1_3'UTR	NM_032030	NP_114419	Q7LBC9	Q7LBC9_HUMAN	FKSG83	233						integral to membrane	pheromone receptor activity				0														0.183976	130.377697	162.106385	62	275	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27293323	27293323	6156	6	G	A	A	A	429	33	FKSG83	2	2
ZNF192	7745	broad.mit.edu	37	6	28121477	28121477	+	Silent	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:28121477G>C	uc003nkn.1	+	c.1419G>C	c.(1417-1419)CGG>CGC	p.R473R	ZNF192_uc010jqx.1_Silent_p.R473R|ZNF192_uc010jqy.1_Silent_p.R286R|ZNF192_uc011dkz.1_Silent_p.R286R	NM_006298	NP_006289	Q15776	ZN192_HUMAN	zinc finger protein 192	473	C2H2-type 6.				regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.270677	98.480938	104.849203	36	97	KEEP	---	---	---	---	capture		Silent	SNP	28121477	28121477	18347	6	G	C	C	C	522	41	ZNF192	3	3
ITPR3	3710	broad.mit.edu	37	6	33626578	33626578	+	Silent	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33626578C>T	uc011drk.1	+	c.501C>T	c.(499-501)TTC>TTT	p.F167F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	167	MIR 1.|Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			central_nervous_system(5)|ovary(3)|lung(1)|kidney(1)	10														0.282051	90.616476	95.61658	33	84	KEEP	---	---	---	---	capture		Silent	SNP	33626578	33626578	8226	6	C	T	T	T	415	32	ITPR3	2	2
MTCH1	23787	broad.mit.edu	37	6	36936707	36936707	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:36936707G>A	uc003ond.1	-	c.1142C>T	c.(1141-1143)TCA>TTA	p.S381L	MTCH1_uc003onc.1_Missense_Mutation_p.S364L|MTCH1_uc010jwo.1_Non-coding_Transcript	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier homolog 1	381					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding				0														0.170732	13.597738	17.803081	7	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36936707	36936707	10306	6	G	A	A	A	585	45	MTCH1	2	2
CYB5R4	51167	broad.mit.edu	37	6	84645991	84645991	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84645991C>T	uc003pkf.2	+	c.1004C>T	c.(1003-1005)TCA>TTA	p.S335L		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	335	FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|oxidation-reduction process|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(2)	2		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		Esophageal Squamous(86;1289 1332 25971 40349 52675)			p.S335L(RPMI8226-Tumor)|p.S335L(COLO775-Tumor)	343				0.152174	24.087121	34.74578	14	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84645991	84645991	4294	6	C	T	T	T	377	29	CYB5R4	2	2
ZNF292	23036	broad.mit.edu	37	6	87967629	87967629	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:87967629T>G	uc003plm.3	+	c.4282T>G	c.(4282-4284)TCC>GCC	p.S1428A		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)										0.087137	-1.820504	39.791812	21	220	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87967629	87967629	18418	6	T	G	G	G	702	54	ZNF292	4	4
RELN	5649	broad.mit.edu	37	7	103275910	103275910	+	Silent	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103275910G>T	uc003vca.2	-	c.2427C>A	c.(2425-2427)CTC>CTA	p.L809L	RELN_uc010liz.2_Silent_p.L809L	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	809	BNR 2.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.251309	110.999143	121.73995	48	143	KEEP	---	---	---	---	capture		Silent	SNP	103275910	103275910	13689	7	G	T	T	T	522	41	RELN	2	2
THSD7A	221981	broad.mit.edu	37	7	11452406	11452406	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11452406G>A	uc003ssf.3	-	c.3559C>T	c.(3559-3561)CGG>TGG	p.R1187W		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1187	TSP type-1 11.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.234043	30.047858	33.057548	11	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11452406	11452406	16407	7	G	A	A	A	506	39	THSD7A	1	1
TAS2R40	259286	broad.mit.edu	37	7	142920108	142920108	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142920108C>G	uc011ksx.1	+	c.937C>G	c.(937-939)CAA>GAA	p.Q313E		NM_176882	NP_795363	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	313	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1	Melanoma(164;0.059)													0.221557	96.585898	108.499898	37	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142920108	142920108	16100	7	C	G	G	G	273	21	TAS2R40	3	3
ABCB5	340273	broad.mit.edu	37	7	20687597	20687597	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20687597A>T	uc010kuh.2	+	c.1102A>T	c.(1102-1104)AGT>TGT	p.S368C	ABCB5_uc003suw.3_5'UTR|ABCB5_uc003suv.3_5'UTR|ABCB5_uc011jyi.1_5'UTR	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	552	Cytoplasmic (Potential).				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.269841	48.745777	51.757746	17	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20687597	20687597	45	7	A	T	T	T	91	7	ABCB5	3	3
PKD1L1	168507	broad.mit.edu	37	7	47842873	47842873	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47842873G>C	uc003tny.1	-	c.7897C>G	c.(7897-7899)CAA>GAA	p.Q2633E	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2633	Helical; (Potential).				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.067568	-2.888766	11.458701	5	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47842873	47842873	12388	7	G	C	C	C	585	45	PKD1L1	3	3
ABCA13	154664	broad.mit.edu	37	7	48315097	48315097	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48315097G>T	uc003toq.2	+	c.5834G>T	c.(5833-5835)AGT>ATT	p.S1945I	ABCA13_uc010kyr.2_Missense_Mutation_p.S1448I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1945					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.19863	68.687116	81.034377	29	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48315097	48315097	32	7	G	T	T	T	468	36	ABCA13	2	2
RADIL	55698	broad.mit.edu	37	7	4917272	4917272	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4917272C>A	uc003snj.1	-	c.499G>T	c.(499-501)GAG>TAG	p.E167*	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	167					cell adhesion|multicellular organismal development|signal transduction		protein binding			central_nervous_system(2)|pancreas(2)|breast(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)										0.234043	21.291894	24.345774	11	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	4917272	4917272	13457	7	C	A	A	A	390	30	RADIL	5	2
TRRAP	8295	broad.mit.edu	37	7	98488042	98488042	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98488042C>A	uc003upp.2	+	c.235C>A	c.(235-237)CAG>AAG	p.Q79K	TRRAP_uc011kis.1_Missense_Mutation_p.Q79K	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	79					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|stomach(2)|lung(1)|liver(1)	27	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)							1847				0.069767	-1.311762	6.907882	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98488042	98488042	17152	7	C	A	A	A	377	29	TRRAP	2	2
ATAD2	29028	broad.mit.edu	37	8	124368698	124368698	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124368698G>C	uc003yqh.3	-	c.1577C>G	c.(1576-1578)TCA>TGA	p.S526*	ATAD2_uc011lii.1_Nonsense_Mutation_p.S317*|ATAD2_uc003yqi.3_Non-coding_Transcript|ATAD2_uc003yqj.2_Nonsense_Mutation_p.S526*	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)											0.141176	27.144335	37.699428	12	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	124368698	124368698	1090	8	G	C	C	C	585	45	ATAD2	5	3
EXTL3	2137	broad.mit.edu	37	8	28574377	28574377	+	Silent	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:28574377G>T	uc003xgz.1	+	c.801G>T	c.(799-801)CGG>CGT	p.R267R		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	267	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding				0		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)										0.275862	37.270672	39.89748	16	42	KEEP	---	---	---	---	capture		Silent	SNP	28574377	28574377	5521	8	G	T	T	T	522	41	EXTL3	2	2
SNTG1	54212	broad.mit.edu	37	8	51351125	51351125	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51351125G>T	uc010lxy.1	+	c.185G>T	c.(184-186)AGA>ATA	p.R62I	SNTG1_uc003xqs.1_Missense_Mutation_p.R62I|SNTG1_uc010lxz.1_Missense_Mutation_p.R62I|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	62	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.174757	34.380058	44.665352	18	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51351125	51351125	15374	8	G	T	T	T	429	33	SNTG1	2	2
ST18	9705	broad.mit.edu	37	8	53084452	53084452	+	Silent	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53084452G>T	uc003xqz.2	-	c.969C>A	c.(967-969)ACC>ACA	p.T323T	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.T288T|ST18_uc011lds.1_Silent_p.T228T|ST18_uc003xra.2_Silent_p.T323T|ST18_uc003xrb.2_Silent_p.T323T	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	323						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)												0.127168	28.930412	52.386996	22	151	KEEP	---	---	---	---	capture		Silent	SNP	53084452	53084452	15730	8	G	T	T	T	444	35	ST18	2	2
TMEM55A	55529	broad.mit.edu	37	8	92008881	92008881	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:92008881C>G	uc003yes.2	-	c.630_splice	c.e6+1	p.T210_splice		NM_018710	NP_061180			transmembrane protein 55A							integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0			BRCA - Breast invasive adenocarcinoma(11;0.033)											0.333333	29.566232	30.230333	9	18	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	92008881	92008881	16720	8	C	G	G	G	221	17	TMEM55A	5	3
HEMGN	55363	broad.mit.edu	37	9	100700349	100700349	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:100700349G>T	uc004axy.2	-	c.70C>A	c.(70-72)CAT>AAT	p.H24N	HEMGN_uc004axz.2_Missense_Mutation_p.H24N	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	hemogen	24	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)												0.209059	138.441776	160.932117	60	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100700349	100700349	7333	9	G	T	T	T	611	47	HEMGN	2	2
RNF20	56254	broad.mit.edu	37	9	104319708	104319708	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104319708G>T	uc004bbn.2	+	c.2212G>T	c.(2212-2214)GCC>TCC	p.A738S		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	738	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|regulation of gene-specific transcription|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)	7		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)										0.205607	90.320517	107.500748	44	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104319708	104319708	13951	9	G	T	T	T	546	42	RNF20	2	2
FGD3	89846	broad.mit.edu	37	9	95766312	95766312	+	Silent	SNP	G	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95766312G>C	uc004asw.2	+	c.573G>C	c.(571-573)GGG>GGC	p.G191G	FGD3_uc004asx.2_Silent_p.G191G|FGD3_uc004asz.2_Silent_p.G191G|FGD3_uc004ata.2_5'UTR	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	191	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(1)|breast(1)	2												OREG0019318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.13253	20.058122	30.970044	11	72	KEEP	---	---	---	---	capture		Silent	SNP	95766312	95766312	6071	9	G	C	C	C	522	41	FGD3	3	3
TFDP3	51270	broad.mit.edu	37	X	132351570	132351570	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:132351570C>A	uc004exb.1	-	c.718G>T	c.(718-720)GAG>TAG	p.E240*		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	240	DCB1 (By similarity).				regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.519481	112.791626	112.816961	40	37	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	132351570	132351570	16327	23	C	A	A	A	390	30	TFDP3	5	2
IL3RA	3563	broad.mit.edu	37	X	1499950	1499950	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:1499950C>G	uc004cps.2	+	c.1015C>G	c.(1015-1017)CCT>GCT	p.P339A	IL3RA_uc011mhd.1_Missense_Mutation_p.P261A	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	339	Cytoplasmic (Potential).|Box 1 motif.					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)									0.147368	21.782808	33.139281	14	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1499950	1499950	7996	23	C	G	G	G	286	22	IL3RA	3	3
ATP2B3	492	broad.mit.edu	37	X	152826267	152826267	+	Silent	SNP	C	T	T			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152826267C>T	uc004fht.1	+	c.2973C>T	c.(2971-2973)CAC>CAT	p.H991H	ATP2B3_uc004fhs.1_Silent_p.H991H|ATP2B3_uc010nuf.1_Silent_p.H14H|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	991	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.122807	9.400259	17.324081	7	50	KEEP	---	---	---	---	capture		Silent	SNP	152826267	152826267	1160	23	C	T	T	T	246	19	ATP2B3	1	1
FLNA	2316	broad.mit.edu	37	X	153587758	153587758	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153587758C>A	uc004fkk.2	-	c.4159G>T	c.(4159-4161)GGC>TGC	p.G1387C	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1387C	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1387	Filamin 12.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	actin cytoskeleton|cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)									518				0.538462	20.307099	20.322451	7	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153587758	153587758	6175	23	C	A	A	A	299	23	FLNA	1	1
APOO	79135	broad.mit.edu	37	X	23897065	23897065	+	Silent	SNP	T	C	C			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:23897065T>C	uc004dax.2	-	c.204A>G	c.(202-204)CGA>CGG	p.R68R	APOO_uc004daw.2_Non-coding_Transcript|APOO_uc004day.3_Non-coding_Transcript	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	apolipoprotein O precursor	68					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle					0														0.493333	124.861638	124.864691	37	38	KEEP	---	---	---	---	capture		Silent	SNP	23897065	23897065	824	23	T	C	C	C	743	58	APOO	4	4
C12orf68	387856	broad.mit.edu	37	12	48578409	48578410	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z059-01	TCGA-17-Z059-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48578409_48578410insG	uc001rrj.2	+	c.504_505insG	c.(502-507)CTTGGGfs	p.L168fs		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	hypothetical protein LOC387856	168_169						cytoplasm				central_nervous_system(1)	1														0.38			3	5		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	48578409	48578410	1754	12	-	G	G	G	808	63	C12orf68	5	5
