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	Transcript_Exon	Transcript_Position	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	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	context_orig	context65	categ	categ_ignoring_null_categ	gene_idx	pat_idx
DNAJC11	55735	broad.mit.edu	37	1	6705885	6705885	+	Silent	SNP	T	C	C			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:6705885T>C	uc001aof.2	-	8	964	c.858A>G	c.(856-858)CGA>CGG	p.R286R	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.R286R|DNAJC11_uc010nzu.1_Silent_p.R196R	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	286					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTAGTGTCTCGGACGATGC	0.587													35	25	---	---	---	---	capture	Silent	SNP	6705885	6705885	DNAJC11	1	T	C	C	C	1	0	0	0	0	0	0	0	1	691	54	3	3	4586	227
NPPA	4878	broad.mit.edu	37	1	11907662	11907662	+	Missense_Mutation	SNP	G	C	C			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:11907662G>C	uc001ati.2	-	1	179	c.80C>G	c.(79-81)CCC>CGC	p.P27R	CLCN6_uc010oav.1_RNA|CLCN6_uc010oaw.1_RNA|CLCN6_uc010oax.1_RNA|CLCN6_uc010oay.1_RNA|CLCN6_uc010oaz.1_RNA|CLCN6_uc010oba.1_RNA	NM_006172	NP_006163	P01160	ANF_HUMAN	natriuretic peptide precursor A preproprotein	27					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTACATGGGATTAGCTCT	0.567													39	565	---	---	---	---	capture	Missense_Mutation	SNP	11907662	11907662	NPPA	1	G	C	C	C	1	0	0	0	0	1	0	0	0	559	43	4	4	10498	227
NPPA	4878	broad.mit.edu	37	1	11907712	11907712	+	Missense_Mutation	SNP	G	C	C			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:11907712G>C	uc001ati.2	-	1	129	c.30C>G	c.(28-30)AGC>AGG	p.S10R		NM_006172	NP_006163	P01160	ANF_HUMAN	natriuretic peptide precursor A preproprotein	10					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGGAGGAAGCTCACGGTGG	0.473													30	523	---	---	---	---	capture	Missense_Mutation	SNP	11907712	11907712	NPPA	1	G	C	C	C	1	0	0	0	0	1	0	0	0	438	34	4	4	10498	227
ADC	113451	broad.mit.edu	37	1	33583641	33583641	+	Missense_Mutation	SNP	T	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:33583641T>A	uc001bwr.2	+	11	1755	c.1168T>A	c.(1168-1170)TAC>AAC	p.Y390N	ADC_uc001bws.2_Missense_Mutation_p.Y390N|ADC_uc009vue.2_Missense_Mutation_p.Y390N|ADC_uc001bwt.1_Missense_Mutation_p.Y295N|ADC_uc001bwu.2_Missense_Mutation_p.Y295N|ADC_uc001bwv.2_Missense_Mutation_p.Y295N|ADC_uc001bww.2_Missense_Mutation_p.Y295N|ADC_uc001bwx.1_Missense_Mutation_p.Y367N|ADC_uc009vug.2_Missense_Mutation_p.Y410N	NM_052998	NP_443724	Q96A70	ADC_HUMAN	ODC antizyme inhibitor-2	390					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CATGGGCGCCTACACTGTGGG	0.632													25	39	---	---	---	---	capture	Missense_Mutation	SNP	33583641	33583641	ADC	1	T	A	A	A	1	0	0	0	0	1	0	0	0	689	53	4	4	287	227
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	G	G	rs146714035	by1000genomes	TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:145367739A>G	uc001end.3	+	85	10595	c.10560A>G	c.(10558-10560)AAA>AAG	p.K3520K	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3445											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.244													4	71	---	---	---	---	capture	Silent	SNP	145367739	145367739	NBPF10	1	A	G	G	G	1	0	0	0	0	0	0	0	1	11	1	3	3	10100	227
FLG	2312	broad.mit.edu	37	1	152285965	152285965	+	Missense_Mutation	SNP	C	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:152285965C>A	uc001ezu.1	-	3	1433	c.1397G>T	c.(1396-1398)GGG>GTG	p.G466V	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	466	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGGAAGACCCTGAACGTCC	0.607									Ichthyosis				59	119	---	---	---	---	capture	Missense_Mutation	SNP	152285965	152285965	FLG	1	C	A	A	A	1	0	0	0	0	1	0	0	0	286	22	4	4	5867	227
AQP10	89872	broad.mit.edu	37	1	154293715	154293715	+	Silent	SNP	T	C	C			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:154293715T>C	uc001feu.2	+	1	124	c.84T>C	c.(82-84)TTT>TTC	p.F28F	AQP10_uc001fev.2_Silent_p.F28F	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	28	Helical; (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)			TGGCAGAGTTTCTGGGTGTGT	0.552													11	25	---	---	---	---	capture	Silent	SNP	154293715	154293715	AQP10	1	T	C	C	C	1	0	0	0	0	0	0	0	1	803	62	3	3	815	227
EFNA3	1944	broad.mit.edu	37	1	155058900	155058900	+	Missense_Mutation	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:155058900G>A	uc001fhf.2	+	5	668	c.598G>A	c.(598-600)GGA>AGA	p.G200R	EFNA3_uc010pew.1_Missense_Mutation_p.G195R|EFNA3_uc010pex.1_Missense_Mutation_p.G174R|EFNA3_uc001fhg.2_Missense_Mutation_p.G177R	NM_004952	NP_004943	P52797	EFNA3_HUMAN	ephrin A3 precursor	200					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity				0	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGACTTTGAGGGAGAGAACCC	0.632											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	30	---	---	---	---	capture	Missense_Mutation	SNP	155058900	155058900	EFNA3	1	G	A	A	A	1	0	0	0	0	1	0	0	0	559	43	2	2	4907	227
AIM2	9447	broad.mit.edu	37	1	159043117	159043117	+	Missense_Mutation	SNP	G	A	A	rs149324922		TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:159043117G>A	uc001ftj.1	-	2	418	c.173C>T	c.(172-174)GCG>GTG	p.A58V		NM_004833	NP_004824	O14862	AIM2_HUMAN	absent in melanoma 2	58	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				ovary(2)|pancreas(1)	3	all_hematologic(112;0.0429)					TGCAGACACCGCCCCAGCATT	0.393													20	34	---	---	---	---	capture	Missense_Mutation	SNP	159043117	159043117	AIM2	1	G	A	A	A	1	0	0	0	0	1	0	0	0	494	38	1	1	432	227
C1orf14	81626	broad.mit.edu	37	1	182908331	182908331	+	Missense_Mutation	SNP	C	G	G			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:182908331C>G	uc001gpu.2	-	5	1341	c.1056G>C	c.(1054-1056)ATG>ATC	p.M352I	C1orf14_uc001gpv.2_Missense_Mutation_p.M233I|C1orf14_uc010pnz.1_Missense_Mutation_p.M210I|C1orf14_uc001gpw.2_Missense_Mutation_p.M72I	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	424											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		AATCTTCCCACATTTTCAGTA	0.338													18	30	---	---	---	---	capture	Missense_Mutation	SNP	182908331	182908331	C1orf14	1	C	G	G	G	1	0	0	0	0	1	0	0	0	221	17	4	4	1982	227
TLR5	7100	broad.mit.edu	37	1	223285929	223285929	+	Missense_Mutation	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:223285929G>A	uc001hnv.1	-	4	891	c.445C>T	c.(445-447)CGC>TGC	p.R149C	TLR5_uc001hnw.1_Missense_Mutation_p.R149C	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	149	LRR 3.|Extracellular (Potential).				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		AGATCCAAGCGAGTTAAAGCC	0.368													27	66	---	---	---	---	capture	Missense_Mutation	SNP	223285929	223285929	TLR5	1	G	A	A	A	1	0	0	0	0	1	0	0	0	481	37	1	1	15839	227
CUBN	8029	broad.mit.edu	37	10	16873370	16873370	+	Missense_Mutation	SNP	C	T	T			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr10:16873370C>T	uc001ioo.2	-	65	10461	c.10409G>A	c.(10408-10410)TGT>TAT	p.C3470Y		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3470	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGAGTTCCACAGTACTTGCC	0.368													32	32	---	---	---	---	capture	Missense_Mutation	SNP	16873370	16873370	CUBN	10	C	T	T	T	1	0	0	0	0	1	0	0	0	221	17	2	2	4011	227
ARMC3	219681	broad.mit.edu	37	10	23287264	23287264	+	Missense_Mutation	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr10:23287264G>A	uc001irm.3	+	11	1446	c.1363G>A	c.(1363-1365)GTG>ATG	p.V455M	ARMC3_uc010qcv.1_Missense_Mutation_p.V455M|ARMC3_uc010qcw.1_Missense_Mutation_p.V192M	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	455	ARM 11.						binding				0						AAACACAGTCGTGCAGAGCAA	0.498													3	7	---	---	---	---	capture	Missense_Mutation	SNP	23287264	23287264	ARMC3	10	G	A	A	A	1	0	0	0	0	1	0	0	0	520	40	1	1	945	227
MICAL2	9645	broad.mit.edu	37	11	12261088	12261088	+	Missense_Mutation	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr11:12261088G>A	uc001mjz.2	+	17	2458	c.2170G>A	c.(2170-2172)GCC>ACC	p.A724T	MICAL2_uc010rch.1_Missense_Mutation_p.A724T|MICAL2_uc001mka.2_Missense_Mutation_p.A724T|MICAL2_uc010rci.1_Missense_Mutation_p.A724T|MICAL2_uc001mkb.2_Missense_Mutation_p.A724T|MICAL2_uc001mkc.2_Missense_Mutation_p.A724T|MICAL2_uc001mkd.2_Missense_Mutation_p.A553T|MICAL2_uc010rcj.1_Missense_Mutation_p.A126T|MICAL2_uc001mkf.2_RNA	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	724						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		TCAGCTGCTGGCCAAGTTTGA	0.493													3	36	---	---	---	---	capture	Missense_Mutation	SNP	12261088	12261088	MICAL2	11	G	A	A	A	1	0	0	0	0	1	0	0	0	546	42	2	2	9482	227
ABCC9	10060	broad.mit.edu	37	12	21954093	21954093	+	Missense_Mutation	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr12:21954093G>A	uc001rfh.2	-	38	4555	c.4535C>T	c.(4534-4536)ACG>ATG	p.T1512M	ABCC9_uc001rfg.2_Missense_Mutation_p.T41M	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1512	Cytoplasmic (Potential).|ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGGTCTGCCGTCAGAATAGT	0.383													24	45	---	---	---	---	capture	Missense_Mutation	SNP	21954093	21954093	ABCC9	12	G	A	A	A	1	0	0	0	0	1	0	0	0	520	40	1	1	59	227
OR6C75	390323	broad.mit.edu	37	12	55758950	55758950	+	Missense_Mutation	SNP	C	T	T			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr12:55758950C>T	uc010spk.1	+	1	56	c.56C>T	c.(55-57)CCA>CTA	p.P19L		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3						ACAAGTGACCCACAGTGGCAG	0.363													47	113	---	---	---	---	capture	Missense_Mutation	SNP	55758950	55758950	OR6C75	12	C	T	T	T	1	0	0	0	0	1	0	0	0	273	21	2	2	11103	227
CUX2	23316	broad.mit.edu	37	12	111742051	111742051	+	Missense_Mutation	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr12:111742051G>A	uc001tsa.1	+	10	944	c.791G>A	c.(790-792)CGG>CAG	p.R264Q		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	264	Potential.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GAAAGTCTCCGGGAACAGCTG	0.652													6	7	---	---	---	---	capture	Missense_Mutation	SNP	111742051	111742051	CUX2	12	G	A	A	A	1	0	0	0	0	1	0	0	0	507	39	1	1	4025	227
LCP1	3936	broad.mit.edu	37	13	46718596	46718596	+	Nonsense_Mutation	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr13:46718596G>A	uc001vaz.3	-	11	1360	c.1234C>T	c.(1234-1236)CGA>TGA	p.R412*	LCP1_uc010ack.2_5'Flank|LCP1_uc001vay.3_Nonsense_Mutation_p.R9*|LCP1_uc001vba.3_Nonsense_Mutation_p.R412*	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	412	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGATTGACTCGAGGGTTAACA	0.418			T	BCL6	NHL 								26	56	---	---	---	---	capture	Nonsense_Mutation	SNP	46718596	46718596	LCP1	13	G	A	A	A	1	0	0	0	0	0	1	0	0	480	37	5	1	8611	227
RGS6	9628	broad.mit.edu	37	14	72943451	72943451	+	Missense_Mutation	SNP	C	G	G			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr14:72943451C>G	uc001xna.3	+	11	1218	c.695C>G	c.(694-696)TCC>TGC	p.S232C	RGS6_uc010ttn.1_Missense_Mutation_p.S232C|RGS6_uc001xmx.3_Missense_Mutation_p.S232C|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.S232C|RGS6_uc010ttp.1_Missense_Mutation_p.S163C|RGS6_uc001xmz.1_Missense_Mutation_p.S93C	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	232					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCTCCTAGTCCGTGTATGGC	0.323													9	20	---	---	---	---	capture	Missense_Mutation	SNP	72943451	72943451	RGS6	14	C	G	G	G	1	0	0	0	0	1	0	0	0	390	30	4	4	13201	227
CCPG1	9236	broad.mit.edu	37	15	55652658	55652658	+	Missense_Mutation	SNP	A	G	G			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr15:55652658A>G	uc002acv.1	-	8	1478	c.1313T>C	c.(1312-1314)CTA>CCA	p.L438P	CCPG1_uc002acy.2_Missense_Mutation_p.L438P|CCPG1_uc002acu.1_Missense_Mutation_p.L294P|CCPG1_uc002acw.1_Missense_Mutation_p.L163P|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.L438P|CCPG1_uc002acz.1_Missense_Mutation_p.L438P	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	438	Potential.|Lumenal (Potential).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		TTCGAAGGTTAGCTTCCGTTC	0.413													91	151	---	---	---	---	capture	Missense_Mutation	SNP	55652658	55652658	CCPG1	15	A	G	G	G	1	0	0	0	0	1	0	0	0	195	15	3	3	2909	227
POLG	5428	broad.mit.edu	37	15	89876416	89876416	+	Silent	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr15:89876416G>A	uc002bns.3	-	2	852	c.570C>T	c.(568-570)CCC>CCT	p.P190P	POLG_uc002bnr.3_Silent_p.P190P	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA-directed DNA polymerase gamma	190					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCCGCTCCTCGGGGATGGCCA	0.711								DNA_polymerases_(catalytic_subunits)					6	9	---	---	---	---	capture	Silent	SNP	89876416	89876416	POLG	15	G	A	A	A	1	0	0	0	0	0	0	0	1	496	39	1	1	12103	227
IFT140	9742	broad.mit.edu	37	16	1574572	1574572	+	Missense_Mutation	SNP	T	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr16:1574572T>A	uc002cmb.2	-	24	3484	c.3122A>T	c.(3121-3123)AAT>ATT	p.N1041I	IFT140_uc002clz.2_Missense_Mutation_p.N654I	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1041	TPR 5.									ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				GCGGATGGCATTCTTGAAGGC	0.652													11	21	---	---	---	---	capture	Missense_Mutation	SNP	1574572	1574572	IFT140	16	T	A	A	A	1	0	0	0	0	1	0	0	0	676	52	4	4	7481	227
ZNF768	79724	broad.mit.edu	37	16	30535896	30535897	+	Missense_Mutation	DNP	AA	GC	GC			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr16:30535896_30535897AA>GC	uc002dyk.3	-	2	1740_1741	c.1564_1565TT>GC	c.(1564-1566)TTC>GCC	p.F522A	ZNF768_uc010vex.1_Missense_Mutation_p.F491A|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.F491A	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	522	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						GCTCTGGGAGAAGGCCTTTCCG	0.678													11	37	---	---	---	---	capture	Missense_Mutation	DNP	30535896	30535897	ZNF768	16	AA	GC	GC	GC	1	0	0	0	0	1	0	0	0	117	9	3	3	18018	227
ZNF629	23361	broad.mit.edu	37	16	30795519	30795519	+	Missense_Mutation	SNP	T	G	G			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr16:30795519T>G	uc002dzs.1	-	3	338	c.130A>C	c.(130-132)ATC>CTC	p.I44L		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			CCCATGATGATCTCCTCCCCA	0.577													7	17	---	---	---	---	capture	Missense_Mutation	SNP	30795519	30795519	ZNF629	16	T	G	G	G	1	0	0	0	0	1	0	0	0	650	50	4	4	17931	227
PKD1L2	114780	broad.mit.edu	37	16	81151072	81151072	+	Missense_Mutation	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr16:81151072G>A	uc002fgh.1	-	41	6677	c.6677C>T	c.(6676-6678)GCC>GTC	p.A2226V	PKD1L2_uc002fgf.1_Missense_Mutation_p.A26V|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2226	Helical; (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CAGGATGATGGCCAGCTCCAG	0.612													44	55	---	---	---	---	capture	Missense_Mutation	SNP	81151072	81151072	PKD1L2	16	G	A	A	A	1	0	0	0	0	1	0	0	0	546	42	2	2	11868	227
KRT31	3881	broad.mit.edu	37	17	39550299	39550299	+	Missense_Mutation	SNP	C	T	T			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr17:39550299C>T	uc002hwn.2	-	7	1273	c.1220G>A	c.(1219-1221)CGC>CAC	p.R407H	KRT31_uc010cxn.2_3'UTR	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	407	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)				GGGCCCACAGCGGGGGCGTGG	0.632													11	37	---	---	---	---	capture	Missense_Mutation	SNP	39550299	39550299	KRT31	17	C	T	T	T	1	0	0	0	0	1	0	0	0	351	27	1	1	8387	227
LAMA1	284217	broad.mit.edu	37	18	6985300	6985300	+	Missense_Mutation	SNP	C	T	T			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr18:6985300C>T	uc002knm.2	-	39	5690	c.5596G>A	c.(5596-5598)GAC>AAC	p.D1866N	LAMA1_uc010wzj.1_Missense_Mutation_p.D1342N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1866	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGACCAGGTCGACTGCGTTC	0.507													43	110	---	---	---	---	capture	Missense_Mutation	SNP	6985300	6985300	LAMA1	18	C	T	T	T	1	0	0	0	0	1	0	0	0	403	31	1	1	8525	227
KIAA1632	57724	broad.mit.edu	37	18	43488003	43488003	+	Nonsense_Mutation	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr18:43488003G>A	uc002lbm.2	-	24	4349	c.4249C>T	c.(4249-4251)CAA>TAA	p.Q1417*	KIAA1632_uc002lbo.1_Nonsense_Mutation_p.Q1417*|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Nonsense_Mutation_p.Q292*	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1417					autophagy						0						TCTCCTTTTTGAAAATTCTCA	0.328													9	58	---	---	---	---	capture	Nonsense_Mutation	SNP	43488003	43488003	KIAA1632	18	G	A	A	A	1	0	0	0	0	0	1	0	0	585	45	5	2	8171	227
ME2	4200	broad.mit.edu	37	18	48450505	48450505	+	Missense_Mutation	SNP	T	G	G			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr18:48450505T>G	uc002ley.2	+	11	1350	c.1094T>G	c.(1093-1095)TTT>TGT	p.F365C	ME2_uc010dpd.2_Missense_Mutation_p.F365C	NM_002396	NP_002387	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	365					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding				0		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	CAGGAACCATTTACTCACTCA	0.313													22	61	---	---	---	---	capture	Missense_Mutation	SNP	48450505	48450505	ME2	18	T	G	G	G	1	0	0	0	0	1	0	0	0	832	64	4	4	9331	227
ZNF350	59348	broad.mit.edu	37	19	52472376	52472376	+	Missense_Mutation	SNP	T	C	C			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:52472376T>C	uc002pyd.2	-	3	252	c.24A>G	c.(22-24)ATA>ATG	p.I8M	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	8	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CCTCCAGTGTTATGGATTCCT	0.453													29	72	---	---	---	---	capture	Missense_Mutation	SNP	52472376	52472376	ZNF350	19	T	C	C	C	1	0	0	0	0	1	0	0	0	784	61	3	3	17743	227
PEG3	5178	broad.mit.edu	37	19	57327924	57327924	+	Missense_Mutation	SNP	C	G	G	rs140555816	by1000genomes	TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:57327924C>G	uc002qnu.2	-	7	2237	c.1886G>C	c.(1885-1887)TGT>TCT	p.C629S	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.C600S|PEG3_uc002qnv.2_Missense_Mutation_p.C629S|PEG3_uc002qnw.2_Missense_Mutation_p.C505S|PEG3_uc002qnx.2_Missense_Mutation_p.C503S|PEG3_uc010etr.2_Missense_Mutation_p.C629S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	629	C2H2-type 4.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACACACCTTACATTCGTACAT	0.388													20	64	---	---	---	---	capture	Missense_Mutation	SNP	57327924	57327924	PEG3	19	C	G	G	G	1	0	0	0	0	1	0	0	0	221	17	4	4	11623	227
PEG3	5178	broad.mit.edu	37	19	57327945	57327945	+	Missense_Mutation	SNP	C	G	G			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:57327945C>G	uc002qnu.2	-	7	2216	c.1865G>C	c.(1864-1866)GGT>GCT	p.G622A	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G593A|PEG3_uc002qnv.2_Missense_Mutation_p.G622A|PEG3_uc002qnw.2_Missense_Mutation_p.G498A|PEG3_uc002qnx.2_Missense_Mutation_p.G496A|PEG3_uc010etr.2_Missense_Mutation_p.G622A	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	622					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTCTCTTTACCATACATTTT	0.363													24	42	---	---	---	---	capture	Missense_Mutation	SNP	57327945	57327945	PEG3	19	C	G	G	G	1	0	0	0	0	1	0	0	0	234	18	4	4	11623	227
PEG3	5178	broad.mit.edu	37	19	57328102	57328102	+	Missense_Mutation	SNP	C	G	G			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:57328102C>G	uc002qnu.2	-	7	2059	c.1708G>C	c.(1708-1710)GAA>CAA	p.E570Q	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E541Q|PEG3_uc002qnv.2_Missense_Mutation_p.E570Q|PEG3_uc002qnw.2_Missense_Mutation_p.E446Q|PEG3_uc002qnx.2_Missense_Mutation_p.E444Q|PEG3_uc010etr.2_Missense_Mutation_p.E570Q	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	570	C2H2-type 3.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGAAGGTTTCCTTACACACC	0.368													40	112	---	---	---	---	capture	Missense_Mutation	SNP	57328102	57328102	PEG3	19	C	G	G	G	1	0	0	0	0	1	0	0	0	390	30	4	4	11623	227
PEG3	5178	broad.mit.edu	37	19	57328544	57328544	+	Missense_Mutation	SNP	C	G	G			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:57328544C>G	uc002qnu.2	-	7	1617	c.1266G>C	c.(1264-1266)ATG>ATC	p.M422I	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M393I|PEG3_uc002qnv.2_Missense_Mutation_p.M422I|PEG3_uc002qnw.2_Missense_Mutation_p.M298I|PEG3_uc002qnx.2_Missense_Mutation_p.M296I|PEG3_uc010etr.2_Missense_Mutation_p.M422I	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	422					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGCTTTTCTCATCTCACTAC	0.493													65	148	---	---	---	---	capture	Missense_Mutation	SNP	57328544	57328544	PEG3	19	C	G	G	G	1	0	0	0	0	1	0	0	0	377	29	4	4	11623	227
SEMA4F	10505	broad.mit.edu	37	2	74902997	74902997	+	Missense_Mutation	SNP	G	A	A	rs146294784		TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr2:74902997G>A	uc002sna.1	+	12	1715	c.1604G>A	c.(1603-1605)CGG>CAG	p.R535Q	SEMA4F_uc010ffq.1_Missense_Mutation_p.R502Q|SEMA4F_uc010ffr.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snb.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snc.1_Missense_Mutation_p.R380Q	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	535	PSI.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TGGAGCTTCCGGCTGGATGAG	0.587													21	27	---	---	---	---	capture	Missense_Mutation	SNP	74902997	74902997	SEMA4F	2	G	A	A	A	1	0	0	0	0	1	0	0	0	507	39	1	1	13928	227
KYNU	8942	broad.mit.edu	37	2	143713833	143713833	+	Missense_Mutation	SNP	C	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr2:143713833C>A	uc002tvl.2	+	6	627	c.497C>A	c.(496-498)CCT>CAT	p.P166H	KYNU_uc002tvk.2_Missense_Mutation_p.P166H|KYNU_uc010fnm.2_Missense_Mutation_p.P166H	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	166	Pyridoxal phosphate binding.				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AAAGCCTTCCCTTCTGATCAT	0.343													19	33	---	---	---	---	capture	Missense_Mutation	SNP	143713833	143713833	KYNU	2	C	A	A	A	1	0	0	0	0	1	0	0	0	312	24	4	4	8507	227
SPC25	57405	broad.mit.edu	37	2	169728042	169728042	+	Missense_Mutation	SNP	C	T	T	rs146133605	byFrequency	TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr2:169728042C>T	uc002uel.2	-	7	705	c.574G>A	c.(574-576)GAG>AAG	p.E192K		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	spindle pole body component 25	192	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)	1						GCTAGGCCCTCAAGATGAGGG	0.338													27	39	---	---	---	---	capture	Missense_Mutation	SNP	169728042	169728042	SPC25	2	C	T	T	T	1	0	0	0	0	1	0	0	0	377	29	2	2	14914	227
LRP2	4036	broad.mit.edu	37	2	170050292	170050292	+	Missense_Mutation	SNP	C	T	T			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr2:170050292C>T	uc002ues.2	-	47	9022	c.8809G>A	c.(8809-8811)GAG>AAG	p.E2937K		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2937	LDL-receptor class A 21.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTTTATCCTCGTCACTCATA	0.473													39	71	---	---	---	---	capture	Missense_Mutation	SNP	170050292	170050292	LRP2	2	C	T	T	T	1	0	0	0	0	1	0	0	0	403	31	1	1	8872	227
SLC12A5	57468	broad.mit.edu	37	20	44669236	44669236	+	Silent	SNP	C	T	T			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr20:44669236C>T	uc010zxl.1	+	7	982	c.906C>T	c.(904-906)TTC>TTT	p.F302F	SLC12A5_uc002xra.2_Silent_p.F279F|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.F279F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	302	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTCTGCCTTCGACCCACCCA	0.557													12	46	---	---	---	---	capture	Silent	SNP	44669236	44669236	SLC12A5	20	C	T	T	T	1	0	0	0	0	0	0	0	1	402	31	1	1	14279	227
KCNB1	3745	broad.mit.edu	37	20	47989844	47989844	+	Silent	SNP	A	C	C			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr20:47989844A>C	uc002xur.1	-	2	2417	c.2253T>G	c.(2251-2253)GGT>GGG	p.G751G	KCNB1_uc002xus.1_Silent_p.G751G	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	751	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTGGTGGACACCCGCCTCAA	0.572													17	178	---	---	---	---	capture	Silent	SNP	47989844	47989844	KCNB1	20	A	C	C	C	1	0	0	0	0	0	0	0	1	67	6	4	4	7934	227
GPD1L	23171	broad.mit.edu	37	3	32180198	32180198	+	Silent	SNP	G	A	A	rs149167213		TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr3:32180198G>A	uc003cew.2	+	3	405	c.345G>A	c.(343-345)GCG>GCA	p.A115A		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	115					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity				0						CCAAGAAAGCGCTGGGAATCA	0.502													37	59	---	---	---	---	capture	Silent	SNP	32180198	32180198	GPD1L	3	G	A	A	A	1	0	0	0	0	0	0	0	1	483	38	1	1	6539	227
RUVBL1	8607	broad.mit.edu	37	3	127806571	127806571	+	Missense_Mutation	SNP	T	C	C			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr3:127806571T>C	uc003ekh.2	-	9	1201	c.1097A>G	c.(1096-1098)TAT>TGT	p.Y366C	RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Missense_Mutation_p.Y306C|RUVBL1_uc010hss.2_Missense_Mutation_p.Y366C	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	366					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		CTGTGGAGTATACAGCATGGT	0.453													34	41	---	---	---	---	capture	Missense_Mutation	SNP	127806571	127806571	RUVBL1	3	T	C	C	C	1	0	0	0	0	1	0	0	0	637	49	3	3	13644	227
PIK3CA	5290	broad.mit.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	A	A	rs121913286		TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr3:178936094C>A	uc003fjk.2	+	10	1793	c.1636C>A	c.(1636-1638)CAG>AAG	p.Q546K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	546	PI3K helical.		Q -> K (in cancer).|Q -> P (in cancer).|Q -> E (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546K(54)|p.Q546R(17)|p.Q546P(10)|p.Q546E(9)|p.Q546L(6)|p.Q546H(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	32	---	---	---	---	capture	Missense_Mutation	SNP	178936094	178936094	PIK3CA	3	C	A	A	A	1	0	0	0	0	1	0	0	0	325	25	4	4	11816	227
MFSD10	10227	broad.mit.edu	37	4	2934851	2934851	+	Silent	SNP	C	T	T			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr4:2934851C>T	uc003gfw.2	-	3	668	c.354G>A	c.(352-354)CCG>CCA	p.P118P	MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_5'UTR|MFSD10_uc003gfz.2_Silent_p.P118P|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Silent_p.P118P|MFSD10_uc003ggb.1_Silent_p.P118P|MFSD10_uc003ggc.2_Silent_p.P118P|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank|C4orf10_uc003ggg.1_5'Flank|C4orf10_uc003ggh.2_5'Flank	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	118	Helical; (Potential).				apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCAGCATCACCGGGCGCCTCC	0.627													11	14	---	---	---	---	capture	Silent	SNP	2934851	2934851	MFSD10	4	C	T	T	T	1	0	0	0	0	0	0	0	1	288	23	1	1	9440	227
UGT2A3	79799	broad.mit.edu	37	4	69798434	69798434	+	Missense_Mutation	SNP	A	G	G			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr4:69798434A>G	uc003hef.2	-	3	939	c.908T>C	c.(907-909)GTG>GCG	p.V303A	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	303	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						AGAAAACACCACAATACCATC	0.363													51	120	---	---	---	---	capture	Missense_Mutation	SNP	69798434	69798434	UGT2A3	4	A	G	G	G	1	0	0	0	0	1	0	0	0	78	6	3	3	16837	227
FGG	2266	broad.mit.edu	37	4	155527975	155527975	+	Missense_Mutation	SNP	C	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr4:155527975C>A	uc003ioj.2	-	8	1152	c.1011G>T	c.(1009-1011)CAG>CAT	p.Q337H	FGG_uc003iog.2_Missense_Mutation_p.Q337H|FGG_uc003ioh.2_Missense_Mutation_p.Q345H|FGG_uc010ipx.2_Missense_Mutation_p.Q165H|FGG_uc010ipy.2_Missense_Mutation_p.Q48H|FGG_uc003ioi.2_Missense_Mutation_p.Q48H|FGG_uc003iok.2_Missense_Mutation_p.Q345H	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	337	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGGTACTGAACTGCATGCCAT	0.473													42	80	---	---	---	---	capture	Missense_Mutation	SNP	155527975	155527975	FGG	4	C	A	A	A	1	0	0	0	0	1	0	0	0	259	20	4	4	5816	227
FBXO8	26269	broad.mit.edu	37	4	175160248	175160248	+	Silent	SNP	G	C	C			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr4:175160248G>C	uc003itp.2	-	5	1519	c.669C>G	c.(667-669)GCC>GCG	p.A223A	FBXO8_uc003itq.2_Silent_p.A182A	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	F-box only protein 8	223	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(2)	2		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		GCTCTTCAGGGGCATGGATAT	0.398													15	41	---	---	---	---	capture	Silent	SNP	175160248	175160248	FBXO8	4	G	C	C	C	1	0	0	0	0	0	0	0	1	548	43	4	4	5707	227
PLEKHG4B	153478	broad.mit.edu	37	5	161999	161999	+	Missense_Mutation	SNP	G	T	T			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr5:161999G>T	uc003jak.2	+	10	1571	c.1521G>T	c.(1519-1521)CAG>CAT	p.Q507H		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	507					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGGTCAGCCAGGCTGAGTGCA	0.627													13	21	---	---	---	---	capture	Missense_Mutation	SNP	161999	161999	PLEKHG4B	5	G	T	T	T	1	0	0	0	0	1	0	0	0	451	35	4	4	11975	227
HCN1	348980	broad.mit.edu	37	5	45262526	45262526	+	Missense_Mutation	SNP	C	T	T	rs141383188	byFrequency	TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr5:45262526C>T	uc003jok.2	-	8	2195	c.2170G>A	c.(2170-2172)GCC>ACC	p.A724T		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	724	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						AGCTGGGAGGCGGTGGGGGAG	0.443													6	14	---	---	---	---	capture	Missense_Mutation	SNP	45262526	45262526	HCN1	5	C	T	T	T	1	0	0	0	0	1	0	0	0	351	27	1	1	6922	227
PCDHA7	56141	broad.mit.edu	37	5	140214002	140214002	+	Nonsense_Mutation	SNP	C	T	T			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr5:140214002C>T	uc003lhq.2	+	1	34	c.34C>T	c.(34-36)CGA>TGA	p.R12*	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_uc011dac.1_Nonsense_Mutation_p.R12*	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	12					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGGGGGCCGACATCTACT	0.468													29	57	---	---	---	---	capture	Nonsense_Mutation	SNP	140214002	140214002	PCDHA7	5	C	T	T	T	1	0	0	0	0	0	1	0	0	295	23	5	1	11432	227
PCDHGB3	56102	broad.mit.edu	37	5	140751755	140751755	+	Silent	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr5:140751755G>A	uc003ljw.1	+	1	1794	c.1794G>A	c.(1792-1794)TCG>TCA	p.S598S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.S598S|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	598	Extracellular (Potential).|Cadherin 6.				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)			ACGCAGACTCGGGATACAACG	0.672													34	46	---	---	---	---	capture	Silent	SNP	140751755	140751755	PCDHGB3	5	G	A	A	A	1	0	0	0	0	0	0	0	1	496	39	1	1	11467	227
DRD1	1812	broad.mit.edu	37	5	174869045	174869045	+	Missense_Mutation	SNP	G	A	A	rs144813919	byFrequency	TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr5:174869045G>A	uc003mcz.2	-	2	2003	c.1058C>T	c.(1057-1059)GCG>GTG	p.A353V		NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	353	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			ovary(2)|skin(1)	3	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	ATTATTCGTCGCAGGGCAAAG	0.478													42	54	---	---	---	---	capture	Missense_Mutation	SNP	174869045	174869045	DRD1	5	G	A	A	A	1	0	0	0	0	1	0	0	0	494	38	1	1	4711	227
NKAPL	222698	broad.mit.edu	37	6	28227813	28227813	+	Missense_Mutation	SNP	A	G	G			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr6:28227813A>G	uc003nkt.2	+	1	716	c.664A>G	c.(664-666)AGA>GGA	p.R222G	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	222	Lys-rich.									upper_aerodigestive_tract(1)|ovary(1)	2						TGATAAAAAGAGAGTTAAAGC	0.254													15	24	---	---	---	---	capture	Missense_Mutation	SNP	28227813	28227813	NKAPL	6	A	G	G	G	1	0	0	0	0	1	0	0	0	140	11	3	3	10347	227
PPP1R10	5514	broad.mit.edu	37	6	30573989	30573989	+	Silent	SNP	A	G	G			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr6:30573989A>G	uc003nqn.1	-	9	1218	c.666T>C	c.(664-666)CCT>CCC	p.P222P	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	222	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						TCTTCTTCACAGGCACCAAGG	0.527													3	57	---	---	---	---	capture	Silent	SNP	30573989	30573989	PPP1R10	6	A	G	G	G	1	0	0	0	0	0	0	0	1	80	7	3	3	12253	227
COL11A2	1302	broad.mit.edu	37	6	33141808	33141808	+	Missense_Mutation	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr6:33141808G>A	uc003ocx.1	-	33	2737	c.2509C>T	c.(2509-2511)CGG>TGG	p.R837W	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.R751W|COL11A2_uc003ocz.1_Missense_Mutation_p.R730W	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	837	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						CGTTCTCCCCGAGGCCCTGAC	0.612													19	34	---	---	---	---	capture	Missense_Mutation	SNP	33141808	33141808	COL11A2	6	G	A	A	A	1	0	0	0	0	1	0	0	0	480	37	1	1	3633	227
NOX3	50508	broad.mit.edu	37	6	155743956	155743957	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr6:155743956_155743957TC>AA	uc003qqm.2	-	10	1282_1283	c.1179_1180GA>TT	c.(1177-1182)CTGACA>CTTTCA	p.T394S		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	394	Extracellular (Potential).|FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AATACATCTGTCAGGGCAGTTC	0.520													45	65	---	---	---	---	capture	Missense_Mutation	DNP	155743956	155743957	NOX3	6	TC	AA	AA	AA	1	0	0	0	0	1	0	0	0	754	58	4	4	10464	227
PPP1R9A	55607	broad.mit.edu	37	7	94827740	94827740	+	Missense_Mutation	SNP	C	T	T			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr7:94827740C>T	uc003unp.2	+	6	2116	c.1834C>T	c.(1834-1836)CGC>TGC	p.R612C	PPP1R9A_uc010lfj.2_Missense_Mutation_p.R612C|PPP1R9A_uc011kif.1_Missense_Mutation_p.R612C|PPP1R9A_uc003unq.2_Missense_Mutation_p.R612C|PPP1R9A_uc011kig.1_Missense_Mutation_p.R612C	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	612	Potential.|Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAGGAGAGGCGCCAGAGAGA	0.448										HNSCC(28;0.073)			5	143	---	---	---	---	capture	Missense_Mutation	SNP	94827740	94827740	PPP1R9A	7	C	T	T	T	1	0	0	0	0	1	0	0	0	351	27	1	1	12279	227
EPHB6	2051	broad.mit.edu	37	7	142561895	142561895	+	Missense_Mutation	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr7:142561895G>A	uc011kst.1	+	7	1124	c.337G>A	c.(337-339)GCA>ACA	p.A113T	EPHB6_uc011ksu.1_Missense_Mutation_p.A113T|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	113	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					CTCTGTGCGGGCATGCTCCAG	0.657													4	167	---	---	---	---	capture	Missense_Mutation	SNP	142561895	142561895	EPHB6	7	G	A	A	A	1	0	0	0	0	1	0	0	0	546	42	2	2	5133	227
IDO1	3620	broad.mit.edu	37	8	39781104	39781104	+	Silent	SNP	C	T	T			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr8:39781104C>T	uc003xnm.2	+	7	768	c.654C>T	c.(652-654)CAC>CAT	p.H218H	IDO1_uc003xnn.2_RNA	NM_002164	NP_002155	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	218					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)	2					L-Tryptophan(DB00150)	ACCAAATCCACGGCAAGTGTT	0.433													7	23	---	---	---	---	capture	Silent	SNP	39781104	39781104	IDO1	8	C	T	T	T	1	0	0	0	0	0	0	0	1	246	19	1	1	7426	227
TAF1L	138474	broad.mit.edu	37	9	32632187	32632187	+	Missense_Mutation	SNP	T	C	C			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr9:32632187T>C	uc003zrg.1	-	1	3481	c.3391A>G	c.(3391-3393)AAA>GAA	p.K1131E	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1131					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAGCTGGTTTTCTTGTTCTGC	0.468													32	49	---	---	---	---	capture	Missense_Mutation	SNP	32632187	32632187	TAF1L	9	T	C	C	C	1	0	0	0	0	1	0	0	0	806	62	3	3	15411	227
GPR107	57720	broad.mit.edu	37	9	132842036	132842036	+	Missense_Mutation	SNP	C	G	G			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr9:132842036C>G	uc004bze.2	+	5	741	c.514C>G	c.(514-516)CAG>GAG	p.Q172E	GPR107_uc004bzb.2_5'UTR|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.Q172E|GPR107_uc004bzd.2_Missense_Mutation_p.Q172E	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107 isoform 1	172						integral to membrane				upper_aerodigestive_tract(1)	1		Ovarian(14;0.000531)				CAACCAGACCCAGAAGACACA	0.433													10	13	---	---	---	---	capture	Missense_Mutation	SNP	132842036	132842036	GPR107	9	C	G	G	G	1	0	0	0	0	1	0	0	0	273	21	4	4	6557	227
KLHL34	257240	broad.mit.edu	37	X	21675508	21675508	+	Silent	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chrX:21675508G>A	uc004czz.1	-	1	941	c.399C>T	c.(397-399)TTC>TTT	p.F133F		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	133	BACK.									ovary(1)	1						CGTTGGCGGCGAAGCAGCAGT	0.627													4	1	---	---	---	---	capture	Silent	SNP	21675508	21675508	KLHL34	23	G	A	A	A	1	0	0	0	0	0	0	0	1	477	37	1	1	8307	227
GPR34	2857	broad.mit.edu	37	X	41555067	41555067	+	Missense_Mutation	SNP	T	C	C			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chrX:41555067T>C	uc004dfp.3	+	3	465	c.181T>C	c.(181-183)TAC>CAC	p.Y61H	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.Y61H|GPR34_uc010nhg.2_Missense_Mutation_p.Y61H|GPR34_uc004dfr.3_Missense_Mutation_p.Y61H	NM_001097579	NP_001091048	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	61	Extracellular (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						AACCACATCCTACTCTGTTAT	0.398													37	11	---	---	---	---	capture	Missense_Mutation	SNP	41555067	41555067	GPR34	23	T	C	C	C	1	0	0	0	0	1	0	0	0	689	53	3	3	6623	227
MAGEC3	139081	broad.mit.edu	37	X	140967026	140967026	+	Silent	SNP	G	A	A			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chrX:140967026G>A	uc011mwp.1	+	3	324	c.324G>A	c.(322-324)CCG>CCA	p.P108P		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	108										skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGTCAGCCGGAGGGGAAGT	0.562													6	2	---	---	---	---	capture	Silent	SNP	140967026	140967026	MAGEC3	23	G	A	A	A	1	0	0	0	0	0	0	0	1	496	39	1	1	9096	227
ZNF275	10838	broad.mit.edu	37	X	152612297	152612297	+	Missense_Mutation	SNP	C	T	T			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chrX:152612297C>T	uc004fhg.1	+	4	331	c.154C>T	c.(154-156)CAC>TAC	p.H52Y	ZNF275_uc011mym.1_Missense_Mutation_p.H52Y|ZNF275_uc011myn.1_5'UTR			A6NFS0	A6NFS0_HUMAN	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;	52						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCGACCCGACACCAGATGAA	0.552													16	8	---	---	---	---	capture	Missense_Mutation	SNP	152612297	152612297	ZNF275	23	C	T	T	T	1	0	0	0	0	1	0	0	0	221	17	2	2	17690	227
L1CAM	3897	broad.mit.edu	37	X	153128302	153128302	+	Missense_Mutation	SNP	C	T	T			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chrX:153128302C>T	uc004fjb.2	-	28	3698	c.3590G>A	c.(3589-3591)GGG>GAG	p.G1197E	L1CAM_uc004fjc.2_Missense_Mutation_p.G1193E|L1CAM_uc010nuo.2_Missense_Mutation_p.G1188E	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1197	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGATGTCCCCGTTGAGCGA	0.607													12	7	---	---	---	---	capture	Missense_Mutation	SNP	153128302	153128302	L1CAM	23	C	T	T	T	1	0	0	0	0	1	0	0	0	286	22	2	2	8508	227
NF1	4763	broad.mit.edu	37	17	29527568	29527569	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr17:29527568_29527569delCT	uc002hgg.2	+	9	1350_1351	c.1017_1018delCT	c.(1015-1020)AACTCTfs	p.N339fs	NF1_uc002hge.1_Frame_Shift_Del_p.N339fs|NF1_uc002hgf.1_Frame_Shift_Del_p.N339fs|NF1_uc002hgh.2_Frame_Shift_Del_p.N339fs|NF1_uc010csn.1_Frame_Shift_Del_p.N199fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	339_340					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAAGATAACTCTGTCATTTT	0.381			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			20	56	---	---	---	---	capture_indel	Frame_Shift_Del	DEL	29527568	29527569	NF1	17	CT	-	-	-	1	0	1	0	1	0	0	0	0	259	20	6	5	10263	227
DHX57	90957	broad.mit.edu	37	2	39088222	39088222	+	Frame_Shift_Del	DEL	A	-	-			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr2:39088222delA	uc002rrf.2	-	5	1429	c.1330delT	c.(1330-1332)TCTfs	p.S444fs	DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Frame_Shift_Del_p.S444fs	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	444							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				CTGGTCCTAGAGGGTACTGGC	0.378													63	123	---	---	---	---	capture_indel	Frame_Shift_Del	DEL	39088222	39088222	DHX57	2	A	-	-	-	1	0	1	0	1	0	0	0	0	143	11	5	5	4471	227
STAU1	6780	broad.mit.edu	37	20	47734907	47734907	+	Frame_Shift_Del	DEL	G	-	-			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr20:47734907delG	uc002xud.2	-	10	1563	c.1152delC	c.(1150-1152)ACCfs	p.T384fs	STAU1_uc002xua.2_Frame_Shift_Del_p.T303fs|STAU1_uc002xub.2_Frame_Shift_Del_p.T309fs|STAU1_uc002xuc.2_Frame_Shift_Del_p.T303fs|STAU1_uc002xue.2_Frame_Shift_Del_p.T303fs|STAU1_uc002xuf.2_Frame_Shift_Del_p.T309fs|STAU1_uc002xug.2_Frame_Shift_Del_p.T384fs	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	384				QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2).		microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTTCAAAAAAGGTTACTTTTC	0.388													17	48	---	---	---	---	capture_indel	Frame_Shift_Del	DEL	47734907	47734907	STAU1	20	G	-	-	-	1	0	1	0	1	0	0	0	0	444	35	5	5	15162	227
PRKG2	5593	broad.mit.edu	37	4	82125748	82125748	+	Frame_Shift_Del	DEL	C	-	-			TCGA-28-6450-01	TCGA-28-6450-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr4:82125748delC	uc003hmh.2	-	1	468	c.454delG	c.(454-456)GACfs	p.D152fs	PRKG2_uc011cch.1_Frame_Shift_Del_p.D152fs	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	152					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						TACCTGGAGTCTTTTCTGACT	0.428													157	296	---	---	---	---	capture_indel	Frame_Shift_Del	DEL	82125748	82125748	PRKG2	4	C	-	-	-	1	0	1	0	1	0	0	0	0	416	32	5	5	12419	227
