Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Genome_Change	Annotation_Transcript	Transcript_Strand	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
DHX32	55760	broad.mit.edu	36	10	127517716	127517716	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:127517716G>C	uc001ljf.1	-	c.1725C>G	c.(1723-1725)TTC>TTG	p.F575L	DHX32_uc001lje.1_Missense_Mutation_p.F199L|DHX32_uc001ljg.1_Missense_Mutation_p.F575L|BCCIP_uc001ljc.2_Intron|BCCIP_uc001ljd.2_Intron	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	575						mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)												0.129771	34.186415	51.656271	17	114	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	127517716	127517716	4684	10	G	C	C	41	41	DHX32	C	3	3
ADAMTS14	140766	broad.mit.edu	36	10	72187801	72187801	+	Silent	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:72187801C>T	uc001jrg.1	+	c.3024C>T	c.(3022-3024)TGC>TGT	p.C1008C	ADAMTS14_uc001jrh.1_Silent_p.C1005C	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1005	TSP type-1 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)	5														0.701754	122.648036	124.764483	40	17	CC		KEEP	---	---	---	---	capture			Silent	SNP	72187801	72187801	260	10	C	T	T	27	27	ADAMTS14	T	1	1
PIK3AP1	118788	broad.mit.edu	36	10	98395238	98395238	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:98395238C>G	uc001kmq.1	-	c.1357G>C	c.(1357-1359)GCT>CCT	p.A453P	PIK3AP1_uc001kmp.1_Missense_Mutation_p.A275P	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	453						cytoplasm|plasma membrane				ovary(1)	1		Colorectal(252;0.0442)												0.28	9.688267	10.797195	7	18	CC		KEEP	---	---	---	---	capture		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	Missense_Mutation	SNP	98395238	98395238	12332	10	C	G	G	28	28	PIK3AP1	G	3	3
HTR3B	9177	broad.mit.edu	36	11	113320578	113320578	+	Silent	SNP	C	G	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:113320578C>G	uc001pok.1	+	c.981C>G	c.(979-981)CTC>CTG	p.L327L	HTR3B_uc001pol.1_Silent_p.L316L	NM_006028	NP_006019	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B	327	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)												0.302326	125.782742	130.278623	39	90	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Silent	SNP	113320578	113320578	7745	11	C	G	G	30	30	HTR3B	G	3	3
ELF5	2001	broad.mit.edu	36	11	34471760	34471760	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:34471760C>T	uc001mvo.1	-	c.227G>A	c.(226-228)TGC>TAC	p.C76Y	ELF5_uc001mvp.1_Missense_Mutation_p.C66Y|ELF5_uc009ykd.1_Intron|ELF5_uc001mvq.1_Missense_Mutation_p.C66Y	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	E74-like factor 5 ESE-2a	76	PNT.				cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				Melanoma(61;202 1660 4348 21594)						OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.3875	80.796525	81.685565	31	49	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34471760	34471760	5248	11	C	T	T	25	25	ELF5	T	2	2
OR5D13	390142	broad.mit.edu	36	11	55298204	55298204	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0877-01	TCGA-06-0877-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55298204A>T	uc001nhu.1	+	c.715A>T	c.(715-717)ACT>TCT	p.T239S		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	239	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		all_epithelial(135;0.196)												0.363636	177.042281	179.924589	64	112	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55298204	55298204	11564	11	A	T	T	2	2	OR5D13	T	4	4
OR5L2	26338	broad.mit.edu	36	11	55351442	55351442	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55351442C>A	uc001nhy.1	+	c.172C>A	c.(172-174)CCC>ACC	p.P58T		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.304878	312.027321	325.897927	125	285	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55351442	55351442	11581	11	C	A	A	22	22	OR5L2	A	3	3
OR5W2	390148	broad.mit.edu	36	11	55438047	55438047	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55438047C>G	uc001nib.1	-	c.588G>C	c.(586-588)GAG>GAC	p.E196D		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	196	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						Melanoma(48;171 1190 15239 43886 49348)								0.346154	150.240323	152.954919	45	85	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55438047	55438047	11595	11	C	G	G	20	20	OR5W2	G	3	3
OR9G1	390174	broad.mit.edu	36	11	56224851	56224851	+	Nonsense_Mutation	SNP	A	T	T			TCGA-06-0877-01	TCGA-06-0877-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56224851A>T	uc001njd.1	+	c.412A>T	c.(412-414)AAG>TAG	p.K138*		NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.162534	106.211441	145.499769	59	304	AA		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	56224851	56224851	11661	11	A	T	T	1	1	OR9G1	T	5	4
OR9G1	390174	broad.mit.edu	36	11	56225091	56225091	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56225091C>A	uc001njd.1	+	c.652C>A	c.(652-654)CTC>ATC	p.L218I		NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G,	218	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.163934	93.521418	126.295945	50	255	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56225091	56225091	11661	11	C	A	A	24	24	OR9G1	A	3	3
DCHS1	8642	broad.mit.edu	36	11	6600048	6600048	+	Silent	SNP	A	C	C			TCGA-06-0877-01	TCGA-06-0877-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6600048A>C	uc001mem.1	-	c.9435T>G	c.(9433-9435)GGT>GGG	p.G3145G	TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	3145	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)												0.428571	6.809801	6.843284	3	4	AA		KEEP	---	---	---	---	capture		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Silent	SNP	6600048	6600048	4458	11	A	C	C	6	6	DCHS1	C	4	4
DCHS1	8642	broad.mit.edu	36	11	6602090	6602090	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6602090G>C	uc001mem.1	-	c.7393C>G	c.(7393-7395)CGA>GGA	p.R2465G		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2465	Cadherin 23.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)												0.25	8.791359	9.701349	4	12	GG		KEEP	---	---	---	---	capture		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	6602090	6602090	4458	11	G	C	C	40	40	DCHS1	C	3	3
FGF3	2248	broad.mit.edu	36	11	69334345	69334345	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:69334345C>T	uc001oph.1	-	c.629G>A	c.(628-630)CGG>CAG	p.R210Q		NM_005247	NP_005238	P11487	FGF3_HUMAN	fibroblast growth factor 3 precursor	210					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			ovary(1)|lung(1)	2														0.333333	11.897429	12.191922	4	8	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Missense_Mutation	SNP	69334345	69334345	6090	11	C	T	T	23	23	FGF3	T	1	1
DHCR7	1717	broad.mit.edu	36	11	70832826	70832826	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:70832826C>A	uc001oqk.1	-	c.182G>T	c.(181-183)TGT>TTT	p.C61F	DHCR7_uc001oql.1_Missense_Mutation_p.C61F	NM_001360	NP_001351	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	61					cholesterol biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)									0.333333	6.891961	7.189203	4	8	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70832826	70832826	4656	11	C	A	A	17	17	DHCR7	A	3	3
CUX2	23316	broad.mit.edu	36	12	110232508	110232508	+	Silent	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110232508C>T	uc001tsa.1	+	c.1539C>T	c.(1537-1539)GGC>GGT	p.G513G		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	513	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4														0.375	7.723355	7.832904	3	5	CC		KEEP	---	---	---	---	capture			Silent	SNP	110232508	110232508	4225	12	C	T	T	27	27	CUX2	T	1	1
TMEM132B	114795	broad.mit.edu	36	12	124400694	124400694	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:124400694C>G	uc001uhe.1	+	c.796C>G	c.(796-798)CCA>GCA	p.P266A		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	266	Extracellular (Potential).					integral to membrane				ovary(5)|large_intestine(1)|breast(1)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.467213	488.578242	488.919639	171	195	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	Missense_Mutation	SNP	124400694	124400694	16577	12	C	G	G	22	22	TMEM132B	G	3	3
ETNK1	55500	broad.mit.edu	36	12	22669484	22669484	+	Silent	SNP	T	C	C			TCGA-06-0877-01	TCGA-06-0877-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:22669484T>C	uc001rft.1	+	c.120T>C	c.(118-120)TCT>TCC	p.S40S	ETNK1_uc001rfs.1_Silent_p.S40S|ETNK1_uc009ziz.1_Silent_p.S40S	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1 isoform A	40					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity				0						Esophageal Squamous(42;87 913 3224 6226 43339)								0.357143	7.24513	7.50705	5	9	TT		KEEP	---	---	---	---	capture			Silent	SNP	22669484	22669484	5466	12	T	C	C	54	54	ETNK1	C	4	4
MAP3K12	7786	broad.mit.edu	36	12	52162239	52162239	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:52162239C>T	uc001sdn.1	-	c.2333G>A	c.(2332-2334)CGC>CAC	p.R778H	MAP3K12_uc001sdm.1_Missense_Mutation_p.R745H	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	745					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)	4										178		OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.503247	462.520978	462.523997	155	153	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52162239	52162239	9629	12	C	T	T	27	27	MAP3K12	T	1	1
TBC1D4	9882	broad.mit.edu	36	13	74831905	74831905	+	Splice_Site_SNP	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:74831905C>T	uc001vjl.1	-	c.1170_splice	c.e3+1	p.Q390_splice	TBC1D4_uc010aes.1_Splice_Site_SNP_p.Q390_splice	NM_014832	NP_055647			TBC1 domain family, member 4							cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)	5		Prostate(6;0.014)|Breast(118;0.0982)												0.306931	84.88508	88.243024	31	70	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;0.0116)	Splice_Site_SNP	SNP	74831905	74831905	16148	13	C	T	T	18	18	TBC1D4	T	5	2
SERPINA1	5265	broad.mit.edu	36	14	93919311	93919311	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93919311G>A	uc001ycx.2	-	c.17C>T	c.(16-18)TCG>TTG	p.S6L	SERPINA1_uc001ycw.2_Non-coding_Transcript|SERPINA1_uc010auw.1_Missense_Mutation_p.S6L|SERPINA1_uc010aux.1_Missense_Mutation_p.S6L|SERPINA1_uc001ycy.2_Missense_Mutation_p.S6L|SERPINA1_uc010auy.1_Missense_Mutation_p.S6L|SERPINA1_uc001ycz.2_Missense_Mutation_p.S6L|SERPINA1_uc010auz.1_Missense_Mutation_p.S6L|SERPINA1_uc010ava.1_Missense_Mutation_p.S6L|SERPINA1_uc001ydb.2_Missense_Mutation_p.S6L|SERPINA1_uc010avb.1_Missense_Mutation_p.S6L|SERPINA1_uc001ydc.2_Missense_Mutation_p.S6L|SERPINA1_uc001yda.1_Missense_Mutation_p.S6L	NM_000295	NP_001121179	P01009	A1AT_HUMAN	serine proteinase inhibitor, clade A, member 1	6					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			skin(1)	1		all_cancers(154;0.0649)|all_epithelial(191;0.223)			Alpha-1-proteinase inhibitor(DB00058)									0.320755	45.757855	47.26975	17	36	GG		KEEP	---	---	---	---	capture		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Missense_Mutation	SNP	93919311	93919311	14574	14	G	A	A	37	37	SERPINA1	A	1	1
SLC12A1	6557	broad.mit.edu	36	15	46354085	46354085	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:46354085G>A	uc001zwn.2	+	c.2428G>A	c.(2428-2430)GTG>ATG	p.V810M	SLC12A1_uc001zwq.2_Missense_Mutation_p.V581M|SLC12A1_uc001zwr.2_Missense_Mutation_p.V537M	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	810	Helical; (Potential).				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)			Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)									0.365385	56.612781	57.440853	19	33	GG		KEEP	---	---	---	---	capture		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Missense_Mutation	SNP	46354085	46354085	14877	15	G	A	A	40	40	SLC12A1	A	1	1
ISLR2	57611	broad.mit.edu	36	15	72212427	72212427	+	Silent	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72212427C>T	uc002axd.1	+	c.279C>T	c.(277-279)GGC>GGT	p.G93G	ISLR2_uc002axe.1_Silent_p.G93G|ISLR2_uc010bjf.1_Silent_p.G93G|ISLR2_uc002axf.1_Silent_p.G93G|ISLR2_uc010bjg.1_Silent_p.G93G	NM_020851	NP_065902	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	93	Extracellular (Potential).|LRR 2.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0														0.277778	76.623723	81.41041	30	78	CC		KEEP	---	---	---	---	capture			Silent	SNP	72212427	72212427	8163	15	C	T	T	27	27	ISLR2	T	1	1
PCSK6	5046	broad.mit.edu	36	15	99785698	99785698	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:99785698G>T	uc002bxa.1	-	c.745C>A	c.(745-747)CGT>AGT	p.R249S	PCSK6_uc010bpd.1_Missense_Mutation_p.R119S|PCSK6_uc002bwy.1_Missense_Mutation_p.R249S|PCSK6_uc010bpe.1_Missense_Mutation_p.R249S|PCSK6_uc002bxb.1_Missense_Mutation_p.R249S|PCSK6_uc002bxc.1_Missense_Mutation_p.R249S|PCSK6_uc002bxd.1_Missense_Mutation_p.R249S|PCSK6_uc002bxe.1_Missense_Mutation_p.R249S|PCSK6_uc002bxg.1_Missense_Mutation_p.R249S	NM_138320	NP_612193	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	249	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)													0.571429	12.700759	12.731876	4	3	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		Missense_Mutation	SNP	99785698	99785698	12025	15	G	T	T	37	37	PCSK6	T	3	3
UBN1	29855	broad.mit.edu	36	16	4849918	4849918	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4849918G>A	uc002cyb.1	+	c.619G>A	c.(619-621)GAC>AAC	p.D207N	UBN1_uc002cyc.1_Missense_Mutation_p.D207N	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	ubinuclein 1	207	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.4125	97.957843	98.493481	33	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4849918	4849918	17450	16	G	A	A	45	45	UBN1	A	2	2
SLC12A3	6559	broad.mit.edu	36	16	55486014	55486014	+	Silent	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55486014C>T	uc002ekd.2	+	c.2619C>T	c.(2617-2619)TTC>TTT	p.F873F	SLC12A3_uc010ccm.1_Silent_p.F864F|SLC12A3_uc010ccn.1_Silent_p.F872F	NM_000339	NP_000330	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 1	864	Cytoplasmic (Potential).				sodium ion transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)									0.235955	49.831044	55.509937	21	68	CC		KEEP	---	---	---	---	capture			Silent	SNP	55486014	55486014	14879	16	C	T	T	31	31	SLC12A3	T	1	1
CPNE7	27132	broad.mit.edu	36	16	88183841	88183841	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88183841G>A	uc002fnp.1	+	c.1322G>A	c.(1321-1323)CGG>CAG	p.R441Q	CPNE7_uc002fnq.1_Missense_Mutation_p.R366Q	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	441	VWFA.				lipid metabolic process		transporter activity				0		all_hematologic(23;0.0748)												0.37931	66.633919	67.375815	22	36	GG		KEEP	---	---	---	---	capture		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	Missense_Mutation	SNP	88183841	88183841	3955	16	G	A	A	39	39	CPNE7	A	1	1
TRPV2	51393	broad.mit.edu	36	17	16261908	16261908	+	Splice_Site_SNP	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:16261908G>A	uc002gpy.1	+	c.200_splice	c.e2+1	p.S67_splice	TRPV2_uc002gpz.1_Splice_Site_SNP	NM_016113	NP_057197			transient receptor potential cation channel,						sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1														0.375	42.91439	43.463351	15	25	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	Splice_Site_SNP	SNP	16261908	16261908	17147	17	G	A	A	44	44	TRPV2	A	5	2
ERBB2	2064	broad.mit.edu	36	17	35137650	35137650	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35137650C>A	uc002hso.1	+	c.3595C>A	c.(3595-3597)CCC>ACC	p.P1199T	ERBB2_uc002hsm.1_Missense_Mutation_p.P1169T|ERBB2_uc002hsp.1_Missense_Mutation_p.P1002T|ERBB2_uc010cwb.1_3'UTR	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	erbB-2 isoform a	1199	Cytoplasmic (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(71)|central_nervous_system(16)|ovary(13)|stomach(12)|breast(5)|upper_aerodigestive_tract(4)|large_intestine(3)|liver(3)|endometrium(2)|pancreas(1)	130	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)			Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)			1		271	TCGA GBM(5;<1E-8)			0.324675	141.142083	145.320182	50	104	CC		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Missense_Mutation	SNP	35137650	35137650	5399	17	C	A	A	18	18	ERBB2	A	3	3
CCR7	1236	broad.mit.edu	36	17	35965192	35965192	+	Silent	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:35965192G>A	uc002huw.1	-	c.465C>T	c.(463-465)TAC>TAT	p.Y155Y		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	155	Cytoplasmic (Potential).				activation of Rho GTPase activity|cell maturation|establishment of T cell polarity|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|ruffle organization|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding				0		Breast(137;0.000496)												0.275362	46.50116	49.633523	19	50	GG		KEEP	---	---	---	---	capture			Silent	SNP	35965192	35965192	3073	17	G	A	A	40	40	CCR7	A	1	1
AOC3	8639	broad.mit.edu	36	17	38257195	38257195	+	Silent	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:38257195G>A	uc002ibv.1	+	c.309G>A	c.(307-309)CTG>CTA	p.L103L		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	103	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response|oxidation-reduction process	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)	3		Breast(137;0.000143)			Hydralazine(DB01275)|Phenelzine(DB00780)	NSCLC(3;192 220 10664 11501 16477)								0.353846	109.799887	112.252373	46	84	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(366;0.156)	Silent	SNP	38257195	38257195	738	17	G	A	A	46	46	AOC3	A	2	2
GALNT1	2589	broad.mit.edu	36	18	31511553	31511553	+	Silent	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:31511553G>A	uc010dmu.1	+	c.315G>A	c.(313-315)GGG>GGA	p.G105G	GALNT1_uc002kyz.2_Silent_p.G45G|GALNT1_uc002kzb.1_Silent_p.G105G	NM_020474	NP_065207	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	105	Lumenal (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2														0.341463	202.716288	207.25578	70	135	GG		KEEP	---	---	---	---	capture			Silent	SNP	31511553	31511553	6471	18	G	A	A	44	44	GALNT1	A	2	2
PARD6G	84552	broad.mit.edu	36	18	76019365	76019365	+	Silent	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:76019365C>T	uc002lny.1	-	c.411G>A	c.(409-411)CCG>CCA	p.P137P		NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	137	Pseudo-CRIB.|Interaction with PARD3 and CDC42 (By similarity).				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)												0.3125	11.599357	12.084413	5	11	CC		KEEP	---	---	---	---	capture		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)	Silent	SNP	76019365	76019365	11864	18	C	T	T	27	27	PARD6G	T	1	1
GMIP	51291	broad.mit.edu	36	19	19606707	19606707	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:19606707C>T	uc002nnd.1	-	c.1781G>A	c.(1780-1782)CGT>CAT	p.R594H		NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	594	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1														0.230366	101.816939	114.534464	44	147	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19606707	19606707	6760	19	C	T	T	19	19	GMIP	T	1	1
CD22	933	broad.mit.edu	36	19	40529394	40529394	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40529394G>A	uc010edt.1	+	c.2498G>A	c.(2497-2499)CGG>CAG	p.R833Q	CD22_uc010edu.1_Missense_Mutation_p.R745Q|CD22_uc010edv.1_3'UTR|CD22_uc002nzb.2_Missense_Mutation_p.R656Q|CD22_uc010edw.1_Missense_Mutation_p.R661Q|CD22_uc010edx.1_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule	833	Cytoplasmic (Potential).				cell adhesion		protein binding|sugar binding			ovary(4)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)				OspA lipoprotein(DB00045)	Ovarian(42;1009 1133 23674 26041)								0.346939	50.76476	51.77604	17	32	GG		KEEP	---	---	---	---	capture	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Missense_Mutation	SNP	40529394	40529394	3112	19	G	A	A	39	39	CD22	A	1	1
SIPA1L3	23094	broad.mit.edu	36	19	43325155	43325155	+	Silent	SNP	G	T	T			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43325155G>T	uc002ohk.1	+	c.3498G>T	c.(3496-3498)TCG>TCT	p.S1166S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1166					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2												OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.264706	389.860382	418.763081	153	425	GG		KEEP	---	---	---	---	capture	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		Silent	SNP	43325155	43325155	14826	19	G	T	T	39	39	SIPA1L3	T	3	3
LGALS13	29124	broad.mit.edu	36	19	44789729	44789729	+	Silent	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44789729C>T	uc002omb.1	+	c.330C>T	c.(328-330)TAC>TAT	p.Y110Y		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	galectin-13	110	Galectin.				lipid catabolic process|phospholipid metabolic process		lysophospholipase activity|sugar binding			ovary(1)	1	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)													0.266272	114.539764	122.854623	45	124	CC		KEEP	---	---	---	---	capture	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		Silent	SNP	44789729	44789729	9065	19	C	T	T	19	19	LGALS13	T	1	1
MEGF8	1954	broad.mit.edu	36	19	47566246	47566246	+	Silent	SNP	G	C	C			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47566246G>C	uc002otl.2	+	c.6699G>C	c.(6697-6699)CGG>CGC	p.R2233R	MEGF8_uc002otm.2_Silent_p.R1841R|MEGF8_uc002otn.2_5'UTR	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2300	Extracellular (Potential).|Laminin EGF-like 3.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)												0.18	6.411675	11.198503	9	41	GG		KEEP	---	---	---	---	capture			Silent	SNP	47566246	47566246	9852	19	G	C	C	42	42	MEGF8	C	3	3
RUVBL2	10856	broad.mit.edu	36	19	54199487	54199487	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:54199487G>A	uc002plr.1	+	c.265G>A	c.(265-267)GGC>AGC	p.G89S	RUVBL2_uc002plq.1_Missense_Mutation_p.G44S|RUVBL2_uc010emn.1_Missense_Mutation_p.G44S|RUVBL2_uc002pls.1_Non-coding_Transcript	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	89					DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)												0.280488	128.286945	135.386664	46	118	GG		KEEP	---	---	---	---	capture		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	Missense_Mutation	SNP	54199487	54199487	14233	19	G	A	A	43	43	RUVBL2	A	2	2
ZSCAN5B	342933	broad.mit.edu	36	19	61393476	61393476	+	Silent	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:61393476C>T	uc002qmp.1	-	c.876G>A	c.(874-876)CCG>CCA	p.P292P		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	340					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1														0.212928	133.681533	153.690777	56	207	CC		KEEP	---	---	---	---	capture			Silent	SNP	61393476	61393476	18843	19	C	T	T	23	23	ZSCAN5B	T	1	1
RPS5	6193	broad.mit.edu	36	19	63596182	63596182	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63596182G>T	uc002qsn.1	+	c.136G>T	c.(136-138)GCC>TCC	p.A46S	RPS5_uc002qso.1_Missense_Mutation_p.A46S	NM_001009	NP_001000	P46782	RS5_HUMAN	ribosomal protein S5	46					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome				0		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)												0.210526	35.557559	41.449952	16	60	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)	Missense_Mutation	SNP	63596182	63596182	14128	19	G	T	T	46	46	RPS5	T	3	3
C3	718	broad.mit.edu	36	19	6631227	6631227	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6631227G>T	uc002mfm.1	-	c.4398C>A	c.(4396-4398)TAC>TAA	p.Y1466*	C3_uc002mfl.1_Nonsense_Mutation_p.Y202*	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1466					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			ovary(1)|pancreas(1)	2														0.240385	125.471283	138.249901	50	158	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Nonsense_Mutation	SNP	6631227	6631227	2296	19	G	T	T	36	36	C3	T	5	3
EMR1	2015	broad.mit.edu	36	19	6864826	6864826	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6864826C>T	uc002mfw.1	+	c.1285C>T	c.(1285-1287)CGG>TGG	p.R429W	EMR1_uc010dvb.1_Missense_Mutation_p.R377W|EMR1_uc010dvc.1_Missense_Mutation_p.R429W	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	429	Ser/Thr-rich.|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)	3	all_hematologic(4;0.166)													0.243151	179.489134	197.04295	71	221	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6864826	6864826	5297	19	C	T	T	31	31	EMR1	T	1	1
CLEC4M	10332	broad.mit.edu	36	19	7737627	7737627	+	Silent	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7737627C>T	uc002mib.1	+	c.870C>T	c.(868-870)CAC>CAT	p.H290H	CLEC4M_uc002mhy.1_3'UTR|CLEC4M_uc002mhz.1_Silent_p.H198H|CLEC4M_uc002mia.1_Silent_p.H154H|CLEC4M_uc010dvs.1_Silent_p.H266H|CLEC4M_uc002mic.1_Silent_p.H262H|CLEC4M_uc010dvt.1_Silent_p.H267H|CLEC4M_uc002mie.1_3'UTR|CLEC4M_uc002mif.1_3'UTR|CLEC4M_uc002mig.1_3'UTR|CLEC4M_uc002mih.1_Silent_p.H267H|CLEC4M_uc002mii.1_Silent_p.H9H	NM_214675	NP_999840	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	290	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														0.248889	134.63122	147.508624	56	169	CC		KEEP	---	---	---	---	capture			Silent	SNP	7737627	7737627	3656	19	C	T	T	19	19	CLEC4M	T	1	1
C19orf6	91304	broad.mit.edu	36	19	963523	963523	+	Silent	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:963523G>A	uc002lqr.1	-	c.657C>T	c.(655-657)TTC>TTT	p.F219F	C19orf6_uc002lqq.1_Non-coding_Transcript|C19orf6_uc002lqs.1_Silent_p.F219F	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	membralin isoform 1	219						cytoplasm|integral to membrane				pancreas(2)|breast(1)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)												0.5	7.219089	7.219089	3	3	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	963523	963523	2005	19	G	A	A	41	41	C19orf6	A	2	2
POLR3C	10623	broad.mit.edu	36	1	144319845	144319845	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:144319845C>T	uc001eog.1	-	c.358G>A	c.(358-360)GTT>ATT	p.V120I	POLR3C_uc001eoh.1_Missense_Mutation_p.V107I|POLR3C_uc001eoi.1_Non-coding_Transcript|POLR3C_uc009wix.1_Missense_Mutation_p.V107I|RNF115_uc001eoj.1_5'Flank|RNF115_uc001eok.1_5'Flank|RNF115_uc009wiy.1_5'Flank	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	107					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.340659	168.68292	172.772575	62	120	CC		KEEP	---	---	---	---	capture	Epithelial(2;7.55e-13)		Missense_Mutation	SNP	144319845	144319845	12658	1	C	T	T	17	17	POLR3C	T	2	2
C1orf129	80133	broad.mit.edu	36	1	169227971	169227971	+	Silent	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:169227971C>T	uc001ghg.1	+	c.1071C>T	c.(1069-1071)AGC>AGT	p.S357S	C1orf129_uc009wvy.1_Silent_p.S164S	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133	357							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.315789	42.420216	44.146044	18	39	CC		KEEP	---	---	---	---	capture			Silent	SNP	169227971	169227971	2063	1	C	T	T	27	27	C1orf129	T	1	1
RYR2	6262	broad.mit.edu	36	1	235671379	235671379	+	Silent	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235671379C>T	uc001hyl.1	+	c.1143C>T	c.(1141-1143)TCC>TCT	p.S381S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	381	Cytoplasmic (By similarity).|MIR 5.				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)												0.311688	139.193453	144.029343	48	106	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Silent	SNP	235671379	235671379	14249	1	C	T	T	23	23	RYR2	T	1	1
PLD5	200150	broad.mit.edu	36	1	240450011	240450011	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:240450011C>T	uc001hzo.1	-	c.361G>A	c.(361-363)GCT>ACT	p.A121T	PLD5_uc001hzl.2_Missense_Mutation_p.A151T|PLD5_uc001hzm.2_Missense_Mutation_p.A3T|PLD5_uc001hzn.1_Missense_Mutation_p.A213T	NM_152666	NP_689879	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	213						integral to membrane	catalytic activity			ovary(5)	5	Melanoma(84;0.242)													0.262295	78.541142	84.78067	32	90	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		Missense_Mutation	SNP	240450011	240450011	12475	1	C	T	T	27	27	PLD5	T	1	1
OR2B11	127623	broad.mit.edu	36	1	245681408	245681408	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245681408G>A	uc001icy.1	-	c.500C>T	c.(499-501)ACG>ATG	p.T167M		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)												0.484848	99.801132	99.81405	32	34	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		Missense_Mutation	SNP	245681408	245681408	11394	1	G	A	A	40	40	OR2B11	A	1	1
PUM1	9698	broad.mit.edu	36	1	31252528	31252528	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31252528C>G	uc001bsk.1	-	c.549G>C	c.(547-549)TTG>TTC	p.L183F	PUM1_uc001bsg.1_5'Flank|PUM1_uc001bsh.1_Missense_Mutation_p.L147F|PUM1_uc001bsi.1_Missense_Mutation_p.L147F|PUM1_uc001bsj.1_Missense_Mutation_p.L147F	NM_001020658	NP_001018494	Q14671	PUM1_HUMAN	pumilio 1 isoform 1	147					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)												0.345725	299.278814	304.98655	93	176	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	Missense_Mutation	SNP	31252528	31252528	13283	1	C	G	G	25	25	PUM1	G	3	3
KIF16B	55614	broad.mit.edu	36	20	16355806	16355806	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:16355806C>A	uc010gci.1	-	c.1555G>T	c.(1555-1557)GGG>TGG	p.G519W	KIF16B_uc002wpg.1_Missense_Mutation_p.G519W|KIF16B_uc010gch.1_Missense_Mutation_p.G519W|KIF16B_uc010gcj.1_Missense_Mutation_p.G519W	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	519	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.283708	270.921822	285.87981	101	255	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16355806	16355806	8589	20	C	A	A	21	21	KIF16B	A	3	3
CEP250	11190	broad.mit.edu	36	20	33559026	33559026	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33559026C>A	uc002xcm.1	+	c.6682C>A	c.(6682-6684)CAC>AAC	p.H2228N	CEP250_uc002xcn.1_Missense_Mutation_p.H2172N	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2 isoform 1	2228					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)													0.307692	7.18269	7.619608	4	9	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.0106)		Missense_Mutation	SNP	33559026	33559026	3385	20	C	A	A	17	17	CEP250	A	3	3
DIDO1	11083	broad.mit.edu	36	20	61013157	61013157	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:61013157C>T	uc002ydr.1	-	c.253G>A	c.(253-255)GGC>AGC	p.G85S	DIDO1_uc002yds.1_Missense_Mutation_p.G85S|DIDO1_uc002ydt.1_Missense_Mutation_p.G85S|DIDO1_uc002ydu.1_Missense_Mutation_p.G85S|DIDO1_uc002ydv.1_Missense_Mutation_p.G85S|DIDO1_uc002ydw.1_Missense_Mutation_p.G85S|DIDO1_uc002ydx.1_Missense_Mutation_p.G85S	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	85					apoptosis	cytoplasm|nucleus	zinc ion binding			ovary(3)	3	Breast(26;5.68e-08)					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)								0.211765	40.015967	46.536389	18	67	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61013157	61013157	4701	20	C	T	T	23	23	DIDO1	T	1	1
COL6A1	1291	broad.mit.edu	36	21	46236708	46236708	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0877-01	TCGA-06-0877-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46236708A>T	uc002zhu.1	+	c.1240A>T	c.(1240-1242)AAC>TAC	p.N414Y		NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	414	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)				Palifermin(DB00039)									0.255814	24.306211	26.631489	11	32	AA		KEEP	---	---	---	---	capture		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Missense_Mutation	SNP	46236708	46236708	3837	21	A	T	T	9	9	COL6A1	T	4	4
IL17RA	23765	broad.mit.edu	36	22	15970582	15970582	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:15970582G>C	uc002zly.1	+	c.2473G>C	c.(2473-2475)GCC>CCC	p.A825P	IL17RA_uc010gqt.1_Missense_Mutation_p.A773P	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	825	Cytoplasmic (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity				0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)												0.3	6.419501	6.777974	3	7	GG		KEEP	---	---	---	---	capture		Colorectal(9;0.241)	Missense_Mutation	SNP	15970582	15970582	7940	22	G	C	C	42	42	IL17RA	C	3	3
PPM1F	9647	broad.mit.edu	36	22	20615657	20615657	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:20615657G>C	uc002zvp.1	-	c.754C>G	c.(754-756)CAG>GAG	p.Q252E	PPM1F_uc002zvq.2_Missense_Mutation_p.Q252E	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	252					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)													0.192308	6.885455	9.16961	5	21	GG		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(21;0.155)	Missense_Mutation	SNP	20615657	20615657	12774	22	G	C	C	46	46	PPM1F	C	3	3
VPREB1	7441	broad.mit.edu	36	22	20929423	20929423	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:20929423C>T	uc002zvx.1	+	c.112C>T	c.(112-114)CGC>TGC	p.R38C		NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	38	Framework-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding				0	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)												0.338346	128.855324	131.918349	45	88	CC		KEEP	---	---	---	---	capture		READ - Rectum adenocarcinoma(21;0.145)	Missense_Mutation	SNP	20929423	20929423	17753	22	C	T	T	23	23	VPREB1	T	1	1
CNTNAP5	129684	broad.mit.edu	36	2	125264155	125264155	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0877-01	TCGA-06-0877-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:125264155A>T	uc002tno.1	+	c.2956A>T	c.(2956-2958)AAT>TAT	p.N986Y	CNTNAP5_uc010flu.1_Missense_Mutation_p.N987Y	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	986	EGF-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10														0.569892	159.077995	159.473236	53	40	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.248)	Missense_Mutation	SNP	125264155	125264155	3788	2	A	T	T	5	5	CNTNAP5	T	4	4
GYPC	2995	broad.mit.edu	36	2	127164310	127164310	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:127164310C>T	uc002tnq.1	+	c.59C>T	c.(58-60)CCG>CTG	p.P20L	GYPC_uc002tnr.1_Intron|GYPC_uc010flv.1_Non-coding_Transcript	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	20	Extracellular.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)					Melanoma(110;806 1600 6704 9981 33404)								0.477477	166.749745	166.799545	53	58	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.075)	Missense_Mutation	SNP	127164310	127164310	7190	2	C	T	T	23	23	GYPC	T	1	1
CDCA7	83879	broad.mit.edu	36	2	173939369	173939369	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:173939369G>A	uc002uic.1	+	c.1148G>A	c.(1147-1149)CGT>CAT	p.R383H	CDCA7_uc002uid.1_Missense_Mutation_p.R304H	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 1	304	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1														0.2263	170.454562	192.981054	74	253	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.116)		Missense_Mutation	SNP	173939369	173939369	3219	2	G	A	A	40	40	CDCA7	A	1	1
TTN	7273	broad.mit.edu	36	2	179161589	179161589	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179161589G>A	uc002umr.1	-	c.55405C>T	c.(55405-55407)CGT>TGT	p.R18469C	TTN_uc002ums.1_Missense_Mutation_p.R12164C|TTN_uc010frc.1_Missense_Mutation_p.R12097C|TTN_uc010frd.1_Missense_Mutation_p.R11972C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19396										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										8722				0.510331	827.463026	827.509064	247	237	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179161589	179161589	17290	2	G	A	A	39	39	TTN	A	1	1
IRS1	3667	broad.mit.edu	36	2	227369748	227369748	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0877-01	TCGA-06-0877-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:227369748T>C	uc002voh.2	-	c.1951A>G	c.(1951-1953)AGA>GGA	p.R651G	IRS1_uc010fxb.1_Missense_Mutation_p.R651G	NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	651					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			central_nervous_system(4)|lung(3)|ovary(1)|pancreas(1)	9		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)								143		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.47619	237.684605	237.772849	80	88	TT		KEEP	---	---	---	---	capture		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	Missense_Mutation	SNP	227369748	227369748	8144	2	T	C	C	55	55	IRS1	C	4	4
CLIP4	79745	broad.mit.edu	36	2	29240238	29240238	+	Silent	SNP	C	G	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:29240238C>G	uc002rmv.1	+	c.1572C>G	c.(1570-1572)GGC>GGG	p.G524G	CLIP4_uc002rmw.1_Non-coding_Transcript|CLIP4_uc002rmx.2_Silent_p.G417G	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	524	CAP-Gly 2.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.483568	362.839653	362.888372	103	110	CC		KEEP	---	---	---	---	capture			Silent	SNP	29240238	29240238	3673	2	C	G	G	25	25	CLIP4	G	3	3
ACTG2	72	broad.mit.edu	36	2	73982059	73982059	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:73982059G>A	uc002sjw.1	+	c.113G>A	c.(112-114)CGC>CAC	p.R38H	ACTG2_uc010fex.1_Missense_Mutation_p.R38H|ACTG2_uc010fey.1_Missense_Mutation_p.R38H	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	38					muscle contraction	cytoskeleton|cytosol	ATP binding				0														0.272727	87.345445	94.019012	39	104	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73982059	73982059	198	2	G	A	A	38	38	ACTG2	A	1	1
ADCY5	111	broad.mit.edu	36	3	124649116	124649116	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:124649116G>A	uc003egh.1	-	c.967C>T	c.(967-969)CGC>TGC	p.R323C		NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	323					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4														0.5	33.424591	33.424591	11	11	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0342)	Missense_Mutation	SNP	124649116	124649116	298	3	G	A	A	40	40	ADCY5	A	1	1
PLXNA1	5361	broad.mit.edu	36	3	128219828	128219828	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0877-01	TCGA-06-0877-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:128219828T>G	uc003ejg.1	+	c.3593T>G	c.(3592-3594)GTG>GGG	p.V1198G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1221	Extracellular (Potential).|IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)	2														0.384615	8.119432	8.287132	5	8	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.155)	Missense_Mutation	SNP	128219828	128219828	12545	3	T	G	G	59	59	PLXNA1	G	4	4
DGKG	1608	broad.mit.edu	36	3	187497942	187497942	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0877-01	TCGA-06-0877-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187497942T>G	uc003fqa.1	-	c.335A>C	c.(334-336)AAT>ACT	p.N112T	DGKG_uc003fqb.1_Missense_Mutation_p.N112T|DGKG_uc003fqc.1_Missense_Mutation_p.N112T	NM_001346	NP_001337	P49619	DGKG_HUMAN	diacylglycerol kinase gamma isoform 1	112					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(2)|central_nervous_system(1)|skin(1)	4	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)				Phosphatidylserine(DB00144)					546				0.245989	134.161122	145.143204	46	141	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Missense_Mutation	SNP	187497942	187497942	4648	3	T	G	G	52	52	DGKG	G	4	4
EOMES	8320	broad.mit.edu	36	3	27736793	27736793	+	Silent	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:27736793G>A	uc003cdy.2	-	c.909C>T	c.(907-909)AAC>AAT	p.N303N	EOMES_uc003cdx.1_Silent_p.N303N|EOMES_uc010hfn.1_Silent_p.N303N	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	303	T-box.				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(3)|breast(1)	4														0.46	337.354828	337.707177	115	135	GG		KEEP	---	---	---	---	capture			Silent	SNP	27736793	27736793	5340	3	G	A	A	48	48	EOMES	A	2	2
ZNF197	10168	broad.mit.edu	36	3	44660665	44660665	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:44660665C>G	uc003cnm.1	+	c.3039C>G	c.(3037-3039)TTC>TTG	p.F1013L	ZNF197_uc003cnn.1_Intron|ZNF197_uc003cno.1_Intron|ZNF197_uc003cnp.1_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	1013					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3														0.413043	129.734919	130.342265	38	54	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	Missense_Mutation	SNP	44660665	44660665	18350	3	C	G	G	32	32	ZNF197	G	3	3
CSPG5	10675	broad.mit.edu	36	3	47594311	47594311	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0877-01	TCGA-06-0877-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:47594311T>C	uc003crp.2	-	c.209A>G	c.(208-210)GAA>GGA	p.E70G	CSPG5_uc003crn.1_5'UTR|CSPG5_uc003cro.2_Missense_Mutation_p.E70G	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	70	Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2														0.25	9.561515	10.702273	5	15	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Missense_Mutation	SNP	47594311	47594311	4102	3	T	C	C	62	62	CSPG5	C	4	4
ITIH3	3699	broad.mit.edu	36	3	52815353	52815353	+	Silent	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52815353C>T	uc003dfv.2	+	c.1947C>T	c.(1945-1947)GAC>GAT	p.D649D		NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	649					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3														0.436364	69.291899	69.485935	24	31	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	Silent	SNP	52815353	52815353	8209	3	C	T	T	19	19	ITIH3	T	1	1
EPHA3	2042	broad.mit.edu	36	3	89551186	89551186	+	Missense_Mutation	SNP	T	A	A			TCGA-06-0877-01	TCGA-06-0877-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:89551186T>A	uc003dqy.1	+	c.2030T>A	c.(2029-2031)TTT>TAT	p.F677Y	EPHA3_uc010hom.1_Missense_Mutation_p.F677Y|EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	677	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding			lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)								416	TSP Lung(6;0.00050)			0.383459	141.286437	142.872458	51	82	TT		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	Missense_Mutation	SNP	89551186	89551186	5361	3	T	A	A	64	64	EPHA3	A	4	4
FAM53A	152877	broad.mit.edu	36	4	1627051	1627051	+	Silent	SNP	C	G	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1627051C>G	uc003gdh.1	-	c.333G>C	c.(331-333)TCG>TCC	p.S111S	FAM53A_uc010ibw.1_Silent_p.S111S	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	111						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)												0.25	8.489069	9.40142	4	12	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		Silent	SNP	1627051	1627051	5801	4	C	G	G	19	19	FAM53A	G	3	3
TLR6	10333	broad.mit.edu	36	4	38505617	38505617	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:38505617G>A	uc003gtm.2	-	c.1873C>T	c.(1873-1875)CGG>TGG	p.R625W	TLR6_uc010ifg.1_Missense_Mutation_p.R625W|TLR6_uc010ifh.1_Missense_Mutation_p.R625W	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	625	Cytoplasmic (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2														0.32906	220.802683	226.860615	77	157	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38505617	38505617	16485	4	G	A	A	37	37	TLR6	A	1	1
UGT2B10	7365	broad.mit.edu	36	4	69731048	69731048	+	Silent	SNP	C	G	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:69731048C>G	uc003hee.1	+	c.1449C>G	c.(1447-1449)ACC>ACG	p.T483T		NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family,	483					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(2)	2						Melanoma(133;755 1763 25578 26334 46021)								0.325088	261.885655	269.57726	92	191	CC		KEEP	---	---	---	---	capture			Silent	SNP	69731048	69731048	17514	4	C	G	G	24	24	UGT2B10	G	3	3
PROL1	58503	broad.mit.edu	36	4	71309935	71309935	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:71309935G>T	uc003hfi.1	+	c.301G>T	c.(301-303)GGT>TGT	p.G101C		NM_021225	NP_067048	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	101	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			large_intestine(1)	1		all_hematologic(202;0.196)												0.340471	454.072171	464.581942	159	308	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71309935	71309935	12997	4	G	T	T	43	43	PROL1	T	3	3
AFM	173	broad.mit.edu	36	4	74584759	74584759	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:74584759G>A	uc003hhb.1	+	c.1597G>A	c.(1597-1599)GCA>ACA	p.A533T		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	533	Albumin 3.				transport					ovary(2)	2	Breast(15;0.00102)													0.366197	72.927714	74.046849	26	45	GG		KEEP	---	---	---	---	capture	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Missense_Mutation	SNP	74584759	74584759	362	4	G	A	A	38	38	AFM	A	1	1
ATP10B	23120	broad.mit.edu	36	5	159980102	159980102	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:159980102C>T	uc003lym.1	-	c.2246G>A	c.(2245-2247)CGC>CAC	p.R749H	ATP10B_uc010jit.1_Missense_Mutation_p.R66H|ATP10B_uc003lyn.2_Missense_Mutation_p.R307H	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	749	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)												0.440678	71.72236	71.905546	26	33	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	159980102	159980102	1136	5	C	T	T	27	27	ATP10B	T	1	1
RICTOR	253260	broad.mit.edu	36	5	39007795	39007795	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:39007795C>T	uc003jlp.1	-	c.913G>A	c.(913-915)GGA>AGA	p.G305R	RICTOR_uc010ivf.1_Missense_Mutation_p.G20R|RICTOR_uc003jlq.1_Missense_Mutation_p.G289R	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	305					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7	all_lung(31;0.000396)									698				0.278689	43.444688	46.134971	17	44	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	39007795	39007795	13833	5	C	T	T	21	21	RICTOR	T	2	2
ADAMTS16	170690	broad.mit.edu	36	5	5199486	5199486	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:5199486C>T	uc003jdl.1	+	c.419C>T	c.(418-420)CCG>CTG	p.P140L	ADAMTS16_uc003jdj.1_Missense_Mutation_p.P140L|ADAMTS16_uc003jdk.1_Missense_Mutation_p.P140L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	140					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.315574	226.306843	233.678777	77	167	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5199486	5199486	262	5	C	T	T	23	23	ADAMTS16	T	1	1
PIK3R1	5295	broad.mit.edu	36	5	67624894	67624894	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:67624894G>A	uc003jva.1	+	c.1126G>A	c.(1126-1128)GGA>AGA	p.G376R	PIK3R1_uc003jvb.1_Missense_Mutation_p.G376R|PIK3R1_uc003jvc.1_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.1_Missense_Mutation_p.G106R|PIK3R1_uc003jve.1_Missense_Mutation_p.G55R	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(3)|p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	99		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)			Isoproterenol(DB01064)					370	TCGA GBM(4;<1E-8)			0.318182	103.488433	106.719345	35	75	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Missense_Mutation	SNP	67624894	67624894	12342	5	G	A	A	43	43	PIK3R1	A	2	2
AMD1	262	broad.mit.edu	36	6	111316779	111316779	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:111316779G>A	uc003puk.1	+	c.224G>A	c.(223-225)AGA>AAA	p.R75K	AMD1_uc003pul.1_Intron	NM_001634	NP_001028231	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1 isoform 1	75					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity				0		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)			S-Adenosylmethionine(DB00118)									0.357143	181.148665	184.17065	60	108	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	Missense_Mutation	SNP	111316779	111316779	569	6	G	A	A	33	33	AMD1	A	2	2
ALDH5A1	7915	broad.mit.edu	36	6	24610734	24610734	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:24610734G>A	uc003nef.1	+	c.359G>A	c.(358-360)AGG>AAG	p.R120K	ALDH5A1_uc003neg.1_Missense_Mutation_p.R120K	NM_170740	NP_733936	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 1 precursor	120					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	protein homodimerization activity|succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)									0.365854	95.930619	97.227401	30	52	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	24610734	24610734	505	6	G	A	A	35	35	ALDH5A1	A	2	2
C6orf138	442213	broad.mit.edu	36	6	48084552	48084552	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:48084552C>A	uc003oze.2	-	c.633G>T	c.(631-633)AAG>AAT	p.K211N	C6orf138_uc003ozf.2_Missense_Mutation_p.K228N	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	228						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.317073	69.517837	71.959164	26	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48084552	48084552	2435	6	C	A	A	32	32	C6orf138	A	3	3
RHAG	6005	broad.mit.edu	36	6	49682823	49682823	+	Silent	SNP	T	G	G			TCGA-06-0877-01	TCGA-06-0877-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:49682823T>G	uc003ozk.2	-	c.1137A>C	c.(1135-1137)ACA>ACC	p.T379T	RHAG_uc010jzl.1_Silent_p.T379T|RHAG_uc010jzm.1_Silent_p.R339R	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	379	Helical; (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)	1	Lung NSC(77;0.0255)					Ovarian(176;476 2003 7720 43408 44749)								0.183673	18.343901	22.946976	9	40	TT		KEEP	---	---	---	---	capture			Silent	SNP	49682823	49682823	13790	6	T	G	G	55	55	RHAG	G	4	4
GSTA4	2941	broad.mit.edu	36	6	52958303	52958303	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0877-01	TCGA-06-0877-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:52958303T>G	uc003pbc.1	-	c.177A>C	c.(175-177)GAA>GAC	p.E59D	GSTA4_uc003pbd.1_5'UTR|GSTA4_uc003pbe.1_Intron|GSTA4_uc003pbf.1_Missense_Mutation_p.E59D	NM_001512	NP_001503	O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	59	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity				0	Lung NSC(77;0.103)				Glutathione(DB00143)									0.331522	200.322097	204.944964	61	123	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52958303	52958303	7113	6	T	G	G	64	64	GSTA4	G	4	4
C7orf52	375607	broad.mit.edu	36	7	100604567	100604567	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100604567G>A	uc003uxy.1	-	c.242C>T	c.(241-243)CCT>CTT	p.P81L	C7orf52_uc003uxz.1_Missense_Mutation_p.P81L|C7orf52_uc003uya.1_Missense_Mutation_p.P81L|C7orf52_uc003uyb.1_Missense_Mutation_p.P81L	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	hypothetical protein LOC375607	81	N-acetyltransferase.						N-acetyltransferase activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)													0.257143	16.148887	18.029922	9	26	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	100604567	100604567	2508	7	G	A	A	35	35	C7orf52	A	2	2
SLC26A4	5172	broad.mit.edu	36	7	107137853	107137853	+	Silent	SNP	A	G	G			TCGA-06-0877-01	TCGA-06-0877-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107137853A>G	uc003vep.1	+	c.2208A>G	c.(2206-2208)CAA>CAG	p.Q736Q		NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	736	Cytoplasmic (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)	5														0.317881	153.54751	157.998844	48	103	AA		KEEP	---	---	---	---	capture			Silent	SNP	107137853	107137853	15016	7	A	G	G	3	3	SLC26A4	G	4	4
CCDC129	223075	broad.mit.edu	36	7	31580717	31580717	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0877-01	TCGA-06-0877-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:31580717T>C	uc003tcj.1	+	c.434T>C	c.(433-435)GTG>GCG	p.V145A	CCDC129_uc003tci.1_Missense_Mutation_p.V144A|CCDC129_uc003tck.1_Missense_Mutation_p.V53A	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	145											0														0.288079	231.490969	243.662382	87	215	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31580717	31580717	2884	7	T	C	C	59	59	CCDC129	C	4	4
RIMS2	9699	broad.mit.edu	36	8	105230044	105230044	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:105230044G>C	uc003yls.2	+	c.3180G>C	c.(3178-3180)ATG>ATC	p.M1060I	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.M1049I|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	489					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14										728				0.327586	54.506744	56.034971	19	39	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		Missense_Mutation	SNP	105230044	105230044	13845	8	G	C	C	47	47	RIMS2	C	3	3
ELP3	55140	broad.mit.edu	36	8	28073718	28073718	+	Silent	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:28073718G>A	uc003xgo.2	+	c.1311G>A	c.(1309-1311)TTG>TTA	p.L437L	ELP3_uc003xgn.2_Silent_p.L422L	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	437	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)												0.363636	89.589471	91.023422	32	56	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	Silent	SNP	28073718	28073718	5273	8	G	A	A	48	48	ELP3	A	2	2
CHD7	55636	broad.mit.edu	36	8	61927249	61927249	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0877-01	TCGA-06-0877-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:61927249A>T	uc003xue.1	+	c.5783A>T	c.(5782-5784)CAG>CTG	p.Q1928L		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1928					central nervous system development|chromatin assembly or disassembly|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	chromatin|nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|lung(1)|breast(1)|pancreas(1)	8		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)												0.31068	93.77641	97.056656	32	71	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(89;0.143)		Missense_Mutation	SNP	61927249	61927249	3464	8	A	T	T	7	7	CHD7	T	4	4
SLCO5A1	81796	broad.mit.edu	36	8	70907136	70907136	+	Silent	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:70907136G>A	uc003xyl.1	-	c.327C>T	c.(325-327)TCC>TCT	p.S109S	SLCO5A1_uc010lzb.1_Silent_p.S109S|SLCO5A1_uc003xyk.1_Silent_p.S109S|SLCO5A1_uc010lzc.1_Silent_p.S109S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	109	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)	3	Breast(64;0.0654)											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.310345	101.064307	104.777081	36	80	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		Silent	SNP	70907136	70907136	15228	8	G	A	A	39	39	SLCO5A1	A	1	1
FUT7	2529	broad.mit.edu	36	9	139045459	139045459	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139045459G>C	uc004ckq.2	-	c.553C>G	c.(553-555)CTG>GTG	p.L185V	ABCA2_uc010nby.1_5'Flank|ABCA2_uc010nbz.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	NM_004479	NP_004470	Q11130	FUT7_HUMAN	fucosyltransferase 7	185	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)												0.4375	29.020393	29.132885	14	18	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	Missense_Mutation	SNP	139045459	139045459	6360	9	G	C	C	34	34	FUT7	C	3	3
SLC24A2	25769	broad.mit.edu	36	9	19776746	19776746	+	Nonsense_Mutation	SNP	A	C	C			TCGA-06-0877-01	TCGA-06-0877-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:19776746A>C	uc003zoa.1	-	c.119T>G	c.(118-120)TTA>TGA	p.L40*	SLC24A2_uc003zob.1_Nonsense_Mutation_p.L40*	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	40					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3														0.5	242.054839	242.054839	70	70	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	Nonsense_Mutation	SNP	19776746	19776746	14963	9	A	C	C	13	13	SLC24A2	C	5	4
TESK1	7016	broad.mit.edu	36	9	35599460	35599460	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35599460G>A	uc003zxa.1	+	c.1602G>A	c.(1600-1602)TGG>TGA	p.W534*	TESK1_uc003zwz.1_Non-coding_Transcript|TESK1_uc010mks.1_Nonsense_Mutation_p.W374*	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	534					cell junction assembly|protein phosphorylation|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5										56				0.39726	84.763533	85.436385	29	44	GG		KEEP	---	---	---	---	capture	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Nonsense_Mutation	SNP	35599460	35599460	16294	9	G	A	A	41	41	TESK1	A	5	2
FAM120A	23196	broad.mit.edu	36	9	95329287	95329287	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0877-01	TCGA-06-0877-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:95329287A>G	uc004atw.1	+	c.1448A>G	c.(1447-1449)GAG>GGG	p.E483G	FAM120A_uc004atv.2_Missense_Mutation_p.E483G|FAM120A_uc004atx.2_Missense_Mutation_p.E265G|FAM120A_uc004aty.1_Missense_Mutation_p.E264G|FAM120A_uc004atz.1_Missense_Mutation_p.E132G|FAM120A_uc010mrf.1_Non-coding_Transcript	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	hypothetical protein LOC23196	483						cytoplasm|plasma membrane	RNA binding				0														0.275	6.912185	8.996114	11	29	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95329287	95329287	5612	9	A	G	G	11	11	FAM120A	G	4	4
DKC1	1736	broad.mit.edu	36	X	153647833	153647833	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0877-01	TCGA-06-0877-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:153647833C>G	uc004fmm.1	+	c.412C>G	c.(412-414)CGA>GGA	p.R138G	DKC1_uc010nvf.1_Missense_Mutation_p.R138G|SNORA36A_uc004fmn.1_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	dyskerin isoform 1	138					cell proliferation|pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity				0	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)													0.25	7.195827	8.704185	6	18	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153647833	153647833	4721	23	C	G	G	19	19	DKC1	G	3	3
P2RY4	5030	broad.mit.edu	36	X	69395870	69395870	+	Silent	SNP	G	A	A			TCGA-06-0877-01	TCGA-06-0877-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69395870G>A	uc004dxz.1	-	c.330C>T	c.(328-330)TTC>TTT	p.F110F		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	110	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0														0.727273	76.010264	77.546109	24	9	GG		KEEP	---	---	---	---	capture			Silent	SNP	69395870	69395870	11766	23	G	A	A	37	37	P2RY4	A	1	1
MBNL1	4154	broad.mit.edu	36	3	153500793	153500793	+	Frame_Shift_Del	DEL	A	-	-			TCGA-06-0877-01	TCGA-06-0877-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:153500793_153500793delA	uc003ezm.1	+	c.121_121delA	c.(121-123)AAAfs	p.K41fs	MBNL1_uc003ezg.1_Non-coding_Transcript|MBNL1_uc003ezh.1_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezi.1_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezj.1_Intron|MBNL1_uc003ezl.1_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezp.1_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezn.1_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezo.1_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezk.1_Non-coding_Transcript	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	41	C3H1-type 1.				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)											0.31			62	141				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	153500793	153500793	9741	3	A	-	-	9	9	MBNL1	-	5	5
KCNN2	3781	broad.mit.edu	36	5	113726530	113726531	+	In_Frame_Ins	INS	-	GCC	GCC			TCGA-06-0877-01	TCGA-06-0877-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:113726530_113726531insGCC	uc003kqo.1	+	c.159_160insGCC	c.(157-162)insGCC	p.58_59insA		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	58_59						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)										0.50			4	4				---	---	---	---	capture_indel			In_Frame_Ins	INS	113726530	113726531	8384	5	-	GCC	GCC	55	55	KCNN2	GCC	5	5
C6orf223	221416	broad.mit.edu	36	6	44078482	44078487	+	In_Frame_Del	DEL	GCGGCG	-	-			TCGA-06-0877-01	TCGA-06-0877-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44078482_44078487delGCGGCG	uc003own.1	+	c.370_375delGCGGCG	c.(370-375)GCGGCGdel	p.AA130del	C6orf223_uc003owo.1_In_Frame_Del_p.AA110del	NM_153246	NP_694978	Q8N319	CF223_HUMAN	hypothetical protein LOC221416	130_131	Ala-rich.										0	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)											0.44			4	5				---	---	---	---	capture_indel			In_Frame_Del	DEL	44078482	44078487	2462	6	GCGGCG	-	-	38	38	C6orf223	-	5	5
