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
KIF5B	3799	broad.mit.edu	36	10	32346091	32346091	+	Missense_Mutation	SNP	T	C	C			TCGA-28-1753-01	TCGA-28-1753-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:32346091T>C	uc001iwe.2	-	c.2747A>G	c.(2746-2748)CAT>CGT	p.H916R		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	916	Globular.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)												0.480892	494.600635	494.699865	151	163	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32346091	32346091	8617	10	T	C	C	51	51	KIF5B	C	4	4
PTEN	5728	broad.mit.edu	36	10	89710837	89710837	+	Nonsense_Mutation	SNP	C	A	A			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89710837C>A	uc001kfb.1	+	c.1008C>A	c.(1006-1008)TAC>TAA	p.Y336*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	336	C2 tensin-type.			Y->F: Significantly lower phosphatase activity, reduced protein stability and decreased growth-inhibitory effect.	apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Y336*(3)|p.G165_K342del(1)|p.G165_*404del(1)|p.W274_F341del(1)|p.R335fs*4(1)|p.D326_K342del(1)		endometrium(831)|central_nervous_system(654)|skin(119)|haematopoietic_and_lymphoid_tissue(101)|prostate(97)|large_intestine(90)|breast(67)|lung(63)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(21)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(12)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2308		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						31		264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.368421	120.211981	121.949911	42	72	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	Nonsense_Mutation	SNP	89710837	89710837	13192	10	C	A	A	20	20	PTEN	A	5	3
RPH3A	22895	broad.mit.edu	36	12	111797888	111797888	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:111797888C>T	uc001ttz.1	+	c.905C>T	c.(904-906)CCG>CTG	p.P302L	RPH3A_uc001tty.1_Missense_Mutation_p.P298L|RPH3A_uc009zwe.1_Missense_Mutation_p.P298L|RPH3A_uc001tua.1_Missense_Mutation_p.P62L	NM_014954	NP_055769	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 2	302	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(1)|skin(1)	5														0.244275	82.154844	89.955531	32	99	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(302;0.00453)	Missense_Mutation	SNP	111797888	111797888	14030	12	C	T	T	23	23	RPH3A	T	1	1
LST-3TM12	338821	broad.mit.edu	36	12	21092985	21092985	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:21092985C>T	uc001ren.1	+	c.1208C>T	c.(1207-1209)TCT>TTT	p.S403F	SLCO1B3_uc001rem.1_Intron|LST-3TM12_uc001rep.1_Missense_Mutation_p.S356F	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	356						membrane	transporter activity				0														0.423077	32.819894	32.954309	11	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21092985	21092985	9442	12	C	T	T	32	32	LST-3TM12	T	2	2
E2F7	144455	broad.mit.edu	36	12	75951009	75951009	+	Missense_Mutation	SNP	A	G	G			TCGA-28-1753-01	TCGA-28-1753-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:75951009A>G	uc001sym.2	-	c.1334T>C	c.(1333-1335)ATT>ACT	p.I445T	E2F7_uc009zse.1_5'Flank	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	445					cell cycle|regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|identical protein binding			ovary(1)|kidney(1)	2														0.327586	175.423253	180.006291	57	117	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75951009	75951009	5058	12	A	G	G	4	4	E2F7	G	4	4
SLC7A1	6541	broad.mit.edu	36	13	29008213	29008213	+	Missense_Mutation	SNP	A	G	G			TCGA-28-1753-01	TCGA-28-1753-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr13:29008213A>G	uc001uso.1	-	c.113T>C	c.(112-114)GTG>GCG	p.V38A		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	38	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)			L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)									0.283784	52.743528	55.850632	21	53	AA		KEEP	---	---	---	---	capture		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	Missense_Mutation	SNP	29008213	29008213	15189	13	A	G	G	6	6	SLC7A1	G	4	4
SPERT	220082	broad.mit.edu	36	13	45185864	45185864	+	Missense_Mutation	SNP	G	A	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:45185864G>A	uc001van.1	+	c.703G>A	c.(703-705)GCC>ACC	p.A235T	SPERT_uc001vao.2_Missense_Mutation_p.A199T	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	235						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)												0.361111	31.985889	32.587812	13	23	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	Missense_Mutation	SNP	45185864	45185864	15551	13	G	A	A	38	38	SPERT	A	1	1
SLC25A29	123096	broad.mit.edu	36	14	99828728	99828728	+	Missense_Mutation	SNP	C	G	G			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:99828728C>G	uc001yha.1	-	c.557G>C	c.(556-558)CGC>CCC	p.R186P	SLC25A29_uc010avv.1_Missense_Mutation_p.R120P|SLC25A29_uc001yhb.1_Missense_Mutation_p.R120P	NM_001039355	NP_001034444	Q8N8R3	MCATL_HUMAN	solute carrier family 25, member 29	186	Solcar 3.					integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1		Melanoma(154;0.152)			L-Carnitine(DB00583)									0.375	7.621242	7.731553	3	5	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99828728	99828728	14989	14	C	G	G	27	27	SLC25A29	G	3	3
C15orf2	23742	broad.mit.edu	36	15	22472250	22472250	+	Missense_Mutation	SNP	G	A	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:22472250G>A	uc001ywo.1	+	c.143G>A	c.(142-144)CGC>CAC	p.R48H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	48					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)								443				0.212121	15.017605	17.538265	7	26	GG		KEEP	---	---	---	---	capture		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	Missense_Mutation	SNP	22472250	22472250	1834	15	G	A	A	38	38	C15orf2	A	1	1
SPPL2A	84888	broad.mit.edu	36	15	48819172	48819172	+	Silent	SNP	A	G	G			TCGA-28-1753-01	TCGA-28-1753-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48819172A>G	uc001zyv.1	-	c.730T>C	c.(730-732)TTG>CTG	p.L244L		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	signal peptide peptidase-like 2A	244						integral to membrane	aspartic-type endopeptidase activity				0						Melanoma(50;790 1209 4069 22965 33125)								0.268657	108.04103	114.513413	36	98	AA		KEEP	---	---	---	---	capture		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	Silent	SNP	48819172	48819172	15601	15	A	G	G	2	2	SPPL2A	G	4	4
LARP6	55323	broad.mit.edu	36	15	68915799	68915799	+	Silent	SNP	G	A	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:68915799G>A	uc002ass.1	-	c.300C>T	c.(298-300)ATC>ATT	p.I100I		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	acheron isoform 1	100	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0														0.39738	271.79264	273.897395	91	138	GG		KEEP	---	---	---	---	capture			Silent	SNP	68915799	68915799	8955	15	G	A	A	37	37	LARP6	A	1	1
ARID3B	10620	broad.mit.edu	36	15	72623332	72623332	+	Missense_Mutation	SNP	T	G	G			TCGA-28-1753-01	TCGA-28-1753-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72623332T>G	uc002aye.1	+	c.2T>G	c.(1-3)ATG>AGG	p.M1R	ARID3B_uc002ayc.2_Missense_Mutation_p.M1R|ARID3B_uc002ayd.1_Missense_Mutation_p.M1R	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0														0.347826	7.805655	8.3604	8	15	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	72623332	72623332	932	15	T	G	G	51	51	ARID3B	G	4	4
MSLNL	401827	broad.mit.edu	36	16	760273	760273	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:760273C>T	uc002cjz.1	-	c.2713G>A	c.(2713-2715)GTG>ATG	p.V905M		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	554	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4														0.388889	20.821415	21.015928	7	11	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	760273	760273	10275	16	C	T	T	19	19	MSLNL	T	1	1
OSGIN1	29948	broad.mit.edu	36	16	82551750	82551750	+	Missense_Mutation	SNP	C	T	T	rs62640906	unknown	TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:82551750C>T	uc002fha.1	+	c.529C>T	c.(529-531)CGC>TGC	p.R177C	OSGIN1_uc002fhb.1_Missense_Mutation_p.R94C|OSGIN1_uc002fhc.1_Missense_Mutation_p.R94C	NM_013370	NP_892026	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	177					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0														0.313953	71.786188	74.440213	27	59	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82551750	82551750	11700	16	C	T	T	19	19	OSGIN1	T	1	1
USH1G	124590	broad.mit.edu	36	17	70428264	70428264	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:70428264C>T	uc002jme.1	-	c.262G>A	c.(262-264)GGA>AGA	p.G88R		NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	88	ANK 2.				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	actin cytoskeleton				skin(1)	1	all_lung(278;0.172)|Lung NSC(278;0.207)													0.228346	68.924101	77.511665	29	98	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70428264	70428264	17597	17	C	T	T	23	23	USH1G	T	1	1
TP53	7157	broad.mit.edu	36	17	7517845	7517845	+	Missense_Mutation	SNP	C	T	T	rs28934576	unknown	TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7517845C>T	uc002gim.2	-	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R273H(458)|p.R273L(83)|p.R273P(24)|p.0?(6)|p.R273_C275delRVC(1)|p.?(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.C141fs*29(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)				Pancreas(47;798 1329 9957 10801)	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	111	p.R273H(SW480-Tumor)|p.R273L(NCIH1876-Tumor)|p.R273H(SW620-Tumor)|p.R273H(MDAMB468-Tumor)|p.R273Y(SW1783-Tumor)|p.R273H(YD8-Tumor)|p.R273L(NCIH1838-Tumor)|p.R273H(HT29-Tumor)|p.R273H(MONOMAC6-Tumor)|p.R273L(SNU503-Tumor)|p.R273H(MOLT13-Tumor)|p.R273Y(PF382-Tumor)|p.R273L(NCIH1734-Tumor)|p.R273H(FTC133-Tumor)|p.R273H(SNU601-Tumor)|p.R273H(NCIH1975-Tumor)|p.R273H(NCIH1793-Tumor)|p.R273L(ECGI10-Tumor)|p.R273H(KP1NL-Tumor)|p.R273H(KP1N-Tumor)|p.R273L(NCIH1623-Tumor)|p.R273L(NCIH2009-Tumor)|p.R273H(NCIH508-Tumor)|p.R273H(MONOMAC1-Tumor)|p.R273H(HEC59-Tumor)|p.R273H(FTC238-Tumor)|p.R273H(OC316-Tumor)|p.R273Y(SNUC2A-Tumor)|p.R273H(SUDHL1-Tumor)|p.R273L(HCC38-Tumor)|p.R273H(NCIH2405-Tumor)|p.R273H(HEC6-Tumor)|p.R273H(EN-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.210526	27.675036	32.088999	12	45	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7517845	7517845	16923	17	C	T	T	19	19	TP53	T	1	1
CC2D1A	54862	broad.mit.edu	36	19	13901917	13901917	+	Missense_Mutation	SNP	C	G	G			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:13901917C>G	uc002mxo.1	+	c.2737C>G	c.(2737-2739)CTG>GTG	p.L913V	CC2D1A_uc002mxp.1_Missense_Mutation_p.L912V|CC2D1A_uc010dzh.1_Missense_Mutation_p.L482V	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	913					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0														0.384615	10.766525	10.919857	5	8	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		Missense_Mutation	SNP	13901917	13901917	2846	19	C	G	G	28	28	CC2D1A	G	3	3
BRD4	23476	broad.mit.edu	36	19	15237255	15237255	+	Silent	SNP	C	G	G			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15237255C>G	uc002nar.1	-	c.759G>C	c.(757-759)GTG>GTC	p.V253V	BRD4_uc002nas.1_Silent_p.V253V|BRD4_uc002nat.2_Silent_p.V253V|BRD4_uc002nau.2_Silent_p.V253V	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	253					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2										269				0.259259	13.707039	15.131003	7	20	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		Silent	SNP	15237255	15237255	1535	19	C	G	G	25	25	BRD4	G	3	3
SIPA1L3	23094	broad.mit.edu	36	19	43347017	43347017	+	Missense_Mutation	SNP	G	T	T			TCGA-28-1753-01	TCGA-28-1753-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:43347017G>T	uc002ohk.1	+	c.3839G>T	c.(3838-3840)AGC>ATC	p.S1280I		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1280					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2														0.441176	76.971397	77.166361	30	38	GG		KEEP	---	---	---	---	capture	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		Missense_Mutation	SNP	43347017	43347017	14826	19	G	T	T	34	34	SIPA1L3	T	3	3
LILRB1	10859	broad.mit.edu	36	19	59837948	59837948	+	Missense_Mutation	SNP	G	A	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:59837948G>A	uc002qgm.1	+	c.1408G>A	c.(1408-1410)GTC>ATC	p.V470I	LILRB1_uc010erp.1_Missense_Mutation_p.V84I|LILRB1_uc002qgj.1_Missense_Mutation_p.V469I|LILRB1_uc002qgk.1_Missense_Mutation_p.V470I|LILRB1_uc002qgl.1_Missense_Mutation_p.V469I|LILRB1_uc010erq.1_Missense_Mutation_p.V453I|LILRB1_uc010err.1_Non-coding_Transcript	NM_001081637	NP_001075106	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	469	Helical; (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)	2														0.151899	21.957466	31.114952	12	67	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0188)	Missense_Mutation	SNP	59837948	59837948	9116	19	G	A	A	40	40	LILRB1	A	1	1
PUSL1	126789	broad.mit.edu	36	1	1234787	1234787	+	Missense_Mutation	SNP	T	G	G			TCGA-28-1753-01	TCGA-28-1753-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1234787T>G	uc001aed.1	+	c.414T>G	c.(412-414)TGT>TGG	p.C138W	ACAP3_uc001aeb.1_5'Flank|ACAP3_uc001aec.1_5'UTR|PUSL1_uc009vjx.1_5'UTR	NM_153339	NP_699170	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	138					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)												0.4	8.387754	8.477759	4	6	TT		KEEP	---	---	---	---	capture		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Missense_Mutation	SNP	1234787	1234787	13293	1	T	G	G	58	58	PUSL1	G	4	4
FCRLA	84824	broad.mit.edu	36	1	159948629	159948629	+	Nonsense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:159948629C>T	uc001gbe.1	+	c.850C>T	c.(850-852)CAG>TAG	p.Q284*	FCRLA_uc001gbd.1_Nonsense_Mutation_p.Q278*|FCRLA_uc001gbf.1_Nonsense_Mutation_p.Q189*|FCRLA_uc001gbg.1_Nonsense_Mutation_p.Q138*|FCRLA_uc009wuo.1_Nonsense_Mutation_p.Q144*|FCRLA_uc009wup.1_Intron|FCRLA_uc009wuq.1_Intron|FCRLA_uc009wur.1_Nonsense_Mutation_p.Q139*	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	261					cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)													0.247619	60.292176	66.383148	26	79	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(70;0.00301)		Nonsense_Mutation	SNP	159948629	159948629	6037	1	C	T	T	25	25	FCRLA	T	5	2
RYR2	6262	broad.mit.edu	36	1	235820653	235820653	+	Missense_Mutation	SNP	A	G	G			TCGA-28-1753-01	TCGA-28-1753-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235820653A>G	uc001hyl.1	+	c.3898A>G	c.(3898-3900)ATG>GTG	p.M1300V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1300	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)												0.294444	291.513078	305.122716	106	254	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235820653	235820653	14249	1	A	G	G	8	8	RYR2	G	4	4
HCRTR1	3061	broad.mit.edu	36	1	31859072	31859072	+	Silent	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31859072C>T	uc009vtx.1	+	c.420C>T	c.(418-420)ATC>ATT	p.I140I	HCRTR1_uc001btb.1_5'UTR|HCRTR1_uc001btc.2_Silent_p.I54I|HCRTR1_uc001btd.1_Silent_p.I140I	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	140	Helical; Name=3; (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)												0.155556	48.357023	68.69513	28	152	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.053)	Silent	SNP	31859072	31859072	7284	1	C	T	T	31	31	HCRTR1	T	1	1
CYP4X1	260293	broad.mit.edu	36	1	47284773	47284773	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:47284773C>T	uc001cqt.1	+	c.1121C>T	c.(1120-1122)ACG>ATG	p.T374M	CYP4X1_uc001cqr.1_Missense_Mutation_p.T373M|CYP4X1_uc001cqs.1_Missense_Mutation_p.T309M	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	374					oxidation-reduction process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1														0.370968	130.981914	132.770052	46	78	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47284773	47284773	4358	1	C	T	T	19	19	CYP4X1	T	1	1
CYP4A22	284541	broad.mit.edu	36	1	47379047	47379047	+	Silent	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:47379047C>T	uc001cqv.1	+	c.204C>T	c.(202-204)CAC>CAT	p.H68H	CYP4A22_uc009vyo.1_Silent_p.H68H|CYP4A22_uc009vyp.1_Silent_p.H68H	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A,	68					oxidation-reduction process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			ovary(1)|breast(1)	2						Pancreas(88;1240 1470 2099 14214 37557)								0.20979	66.069952	77.218475	30	113	CC		KEEP	---	---	---	---	capture			Silent	SNP	47379047	47379047	4349	1	C	T	T	19	19	CYP4A22	T	1	1
DMRTB1	63948	broad.mit.edu	36	1	53698227	53698227	+	Nonsense_Mutation	SNP	C	A	A			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:53698227C>A	uc001cvq.1	+	c.513C>A	c.(511-513)TAC>TAA	p.Y171*		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	171	Pro-rich.				regulation of transcription, DNA-dependent|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0														0.461538	11.379283	11.401916	6	7	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	53698227	53698227	4770	1	C	A	A	18	18	DMRTB1	A	5	3
TGM6	343641	broad.mit.edu	36	20	2332044	2332044	+	Missense_Mutation	SNP	A	G	G			TCGA-28-1753-01	TCGA-28-1753-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2332044A>G	uc002wfy.1	+	c.991A>G	c.(991-993)AAT>GAT	p.N331D	TGM6_uc010gal.1_Missense_Mutation_p.N331D	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	331					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)	3					L-Glutamine(DB00130)									0.352941	10.360643	11.151437	12	22	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2332044	2332044	16362	20	A	G	G	9	9	TGM6	G	4	4
ITSN1	6453	broad.mit.edu	36	21	34176454	34176454	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:34176454C>T	uc002yta.1	+	c.4379C>T	c.(4378-4380)CCG>CTG	p.P1460L	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.P1455L|ITSN1_uc002ytj.2_Missense_Mutation_p.P1399L|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002ytk.1_Intron|ITSN1_uc010gmn.1_Intron	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1460					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)	3														0.253012	59.147661	63.736189	21	62	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	34176454	34176454	8230	21	C	T	T	23	23	ITSN1	T	1	1
DIP2A	23181	broad.mit.edu	36	21	46781581	46781581	+	Silent	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46781581C>T	uc002zjo.1	+	c.1659C>T	c.(1657-1659)AAC>AAT	p.N553N	DIP2A_uc002zjn.1_Silent_p.N553N|DIP2A_uc002zjl.1_Silent_p.N553N|DIP2A_uc002zjm.1_Silent_p.N553N|DIP2A_uc010gql.1_Silent_p.N510N|DIP2A_uc002zjp.1_Silent_p.N298N|DIP2A_uc002zjq.1_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	DIP2-like protein isoform a	553					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)													0.12987	83.877319	145.47806	60	402	CC		KEEP	---	---	---	---	capture		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	Silent	SNP	46781581	46781581	4706	21	C	T	T	19	19	DIP2A	T	1	1
SUSD2	56241	broad.mit.edu	36	22	22912099	22912099	+	Silent	SNP	G	A	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22912099G>A	uc002zzn.1	+	c.1455G>A	c.(1453-1455)GCG>GCA	p.A485A		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	485	VWFD.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity				0														0.333333	28.922791	29.730234	11	22	GG		KEEP	---	---	---	---	capture			Silent	SNP	22912099	22912099	15928	22	G	A	A	38	38	SUSD2	A	1	1
MARCO	8685	broad.mit.edu	36	2	119468561	119468561	+	Missense_Mutation	SNP	G	A	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:119468561G>A	uc002tln.1	+	c.1558G>A	c.(1558-1560)GTC>ATC	p.V520I		NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	520	Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4						GBM(8;18 374 7467 11269 32796)								0.237624	56.855201	63.204431	24	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	119468561	119468561	9694	2	G	A	A	40	40	MARCO	A	1	1
NEB	4703	broad.mit.edu	36	2	152192351	152192351	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:152192351C>T	uc010fnx.1	-	c.9346G>A	c.(9346-9348)GAG>AAG	p.E3116K		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin	3116	Nebulin 84.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19														0.316239	407.01729	421.081825	148	320	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.219)	Missense_Mutation	SNP	152192351	152192351	10701	2	C	T	T	31	31	NEB	T	1	1
LRP2	4036	broad.mit.edu	36	2	169752930	169752930	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:169752930C>T	uc002ues.1	-	c.9124G>A	c.(9124-9126)GGG>AGG	p.G3042R		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3042	LDL-receptor class A 24.|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)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23					Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)				p.G3042R(IGROV1-Tumor)	2055				0.268041	143.241047	152.64689	52	142	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Missense_Mutation	SNP	169752930	169752930	9329	2	C	T	T	23	23	LRP2	T	1	1
TTN	7273	broad.mit.edu	36	2	179145892	179145892	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179145892C>T	uc002umr.1	-	c.65509G>A	c.(65509-65511)GAA>AAA	p.E21837K	TTN_uc002ums.1_Missense_Mutation_p.E15532K|TTN_uc010frc.1_Missense_Mutation_p.E15465K|TTN_uc010frd.1_Missense_Mutation_p.E15340K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22764										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									p.E21837K(MEWO-Tumor)	8722				0.365854	87.626552	88.9247	30	52	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179145892	179145892	17290	2	C	T	T	31	31	TTN	T	1	1
ITGA4	3676	broad.mit.edu	36	2	182068814	182068814	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:182068814C>T	uc002unu.1	+	c.1445C>T	c.(1444-1446)ACG>ATG	p.T482M	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	482	Extracellular (Potential).				B cell differentiation|blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6					Natalizumab(DB00108)									0.325581	194.874844	200.678646	70	145	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Missense_Mutation	SNP	182068814	182068814	8182	2	C	T	T	19	19	ITGA4	T	1	1
BARD1	580	broad.mit.edu	36	2	215354286	215354286	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:215354286C>T	uc002veu.2	-	c.557G>A	c.(556-558)AGT>AAT	p.S186N		NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	186					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)												0.35119	171.972002	175.254834	59	109	CC		KEEP	---	---	---	---	capture		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	Missense_Mutation	SNP	215354286	215354286	1333	2	C	T	T	20	20	BARD1	T	2	2
SPEG	10290	broad.mit.edu	36	2	220050260	220050260	+	Silent	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220050260C>T	uc010fwg.1	+	c.4578C>T	c.(4576-4578)ACC>ACT	p.T1526T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1526	Ig-like 8.				muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)								482				0.272727	23.763409	25.297976	9	24	CC		KEEP	---	---	---	---	capture		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	Silent	SNP	220050260	220050260	15548	2	C	T	T	23	23	SPEG	T	1	1
TEKT4	150483	broad.mit.edu	36	2	94903492	94903492	+	Missense_Mutation	SNP	G	A	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:94903492G>A	uc002stw.1	+	c.625G>A	c.(625-627)GCC>ACC	p.A209T	TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	209					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)	2														0.382609	122.810267	124.185172	44	71	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94903492	94903492	16282	2	G	A	A	42	42	TEKT4	A	2	2
FGD5	152273	broad.mit.edu	36	3	14836793	14836793	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:14836793C>T	uc003bzc.1	+	c.488C>T	c.(487-489)GCG>GTG	p.A163V		NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	404					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5														0.309524	33.377409	34.725404	13	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14836793	14836793	6073	3	C	T	T	27	27	FGD5	T	1	1
ADH1B	125	broad.mit.edu	36	4	100454163	100454163	+	Silent	SNP	C	T	T	rs2018417	by-cluster,by-frequency	TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:100454163C>T	uc003hus.2	-	c.666G>A	c.(664-666)GCG>GCA	p.A222A	ADH1B_uc003hut.2_Silent_p.A182A	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	222					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2					Fomepizole(DB01213)|NADH(DB00157)									0.310289	550.96244	570.841198	193	429	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Silent	SNP	100454163	100454163	309	4	C	T	T	23	23	ADH1B	T	1	1
ANK2	287	broad.mit.edu	36	4	114497988	114497988	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:114497988C>T	uc003ibe.2	+	c.8765C>T	c.(8764-8766)CCA>CTA	p.P2922L	ANK2_uc003ibd.2_Intron|ANK2_uc003ibf.2_Intron|ANK2_uc003ibg.2_Intron|ANK2_uc003ibh.2_Intron	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2889					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)												0.27907	357.490588	378.259506	132	341	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	Missense_Mutation	SNP	114497988	114497988	624	4	C	T	T	21	21	ANK2	T	2	2
SLBP	7884	broad.mit.edu	36	4	1671205	1671205	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:1671205C>T	uc010ibx.1	-	c.384G>A	c.(382-384)ATG>ATA	p.M128I	SLBP_uc003gdi.1_Missense_Mutation_p.M121I|SLBP_uc003gdj.1_Missense_Mutation_p.M101I|SLBP_uc003gdk.1_Missense_Mutation_p.M82I|SLBP_uc003gdl.1_Missense_Mutation_p.M38I	NM_006527	NP_006518	Q14493	SLBP_HUMAN	stem-loop (histone) binding protein	121					DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding				0		Breast(71;0.212)|all_epithelial(65;0.241)												0.312057	115.8426	120.280296	44	97	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(23;0.0055)		Missense_Mutation	SNP	1671205	1671205	14867	4	C	T	T	17	17	SLBP	T	2	2
ZFP42	132625	broad.mit.edu	36	4	189161439	189161439	+	Missense_Mutation	SNP	C	G	G			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:189161439C>G	uc003izg.1	+	c.484C>G	c.(484-486)CTA>GTA	p.L162V	ZFP42_uc003izh.1_Missense_Mutation_p.L162V|ZFP42_uc003izi.1_Missense_Mutation_p.L162V|ZFP42_uc010isp.1_Missense_Mutation_p.L162V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	162					female gonad development|male gonad development|meiosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)												0.245342	199.354669	218.386007	79	243	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	Missense_Mutation	SNP	189161439	189161439	18238	4	C	G	G	24	24	ZFP42	G	3	3
PCDHB16	57717	broad.mit.edu	36	5	140543963	140543963	+	Missense_Mutation	SNP	G	T	T			TCGA-28-1753-01	TCGA-28-1753-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140543963G>T	uc003liv.1	+	c.1645G>T	c.(1645-1647)GTG>TTG	p.V549L		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	549	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2														0.203125	29.149543	34.379653	13	51	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140543963	140543963	11961	5	G	T	T	40	40	PCDHB16	T	3	3
GABRG2	2566	broad.mit.edu	36	5	161512778	161512778	+	Silent	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:161512778C>T	uc010jjc.1	+	c.1374C>T	c.(1372-1374)GAC>GAT	p.D458D	GABRG2_uc003lyy.2_Silent_p.D418D|GABRG2_uc003lyz.2_Silent_p.D410D	NM_198903	NP_944493	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	410	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)	4	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)												0.275641	102.757451	109.835145	43	113	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Silent	SNP	161512778	161512778	6423	5	C	T	T	19	19	GABRG2	T	1	1
RFX6	222546	broad.mit.edu	36	6	117338814	117338814	+	Silent	SNP	G	A	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:117338814G>A	uc003pxm.1	+	c.696G>A	c.(694-696)TCG>TCA	p.S232S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	232					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	promoter binding|protein binding|transcription activator activity			ovary(1)|pancreas(1)	2														0.338542	185.754714	190.161831	65	127	GG		KEEP	---	---	---	---	capture			Silent	SNP	117338814	117338814	13739	6	G	A	A	38	38	RFX6	A	1	1
TES	26136	broad.mit.edu	36	7	115679262	115679262	+	Silent	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:115679262C>T	uc003vho.1	+	c.915C>T	c.(913-915)GAC>GAT	p.D305D	TES_uc003vhp.1_Silent_p.D296D	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	testin isoform 1	305	LIM zinc-binding 2.					cytoplasm|focal adhesion|nucleus	zinc ion binding				0	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)												0.21875	50.630735	57.622442	21	75	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(10;0.00878)		Silent	SNP	115679262	115679262	16292	7	C	T	T	19	19	TES	T	1	1
CD36	948	broad.mit.edu	36	7	80138253	80138253	+	Silent	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:80138253C>T	uc003uhc.1	+	c.843C>T	c.(841-843)TCC>TCT	p.S281S	CD36_uc003uhd.2_Silent_p.S281S|CD36_uc003uhe.2_Silent_p.S281S|CD36_uc003uhf.2_Silent_p.S281S|CD36_uc003uhg.2_Silent_p.S281S|CD36_uc003uhh.2_Silent_p.S281S	NM_001127444	NP_001120916	P16671	CD36_HUMAN	CD36 antigen	281	Extracellular (Potential).				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			ovary(1)	1														0.197849	224.740029	264.259117	92	373	CC		KEEP	---	---	---	---	capture			Silent	SNP	80138253	80138253	3135	7	C	T	T	23	23	CD36	T	1	1
FLJ43860	389690	broad.mit.edu	36	8	142546758	142546758	+	Missense_Mutation	SNP	T	G	G			TCGA-28-1753-01	TCGA-28-1753-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:142546758T>G	uc003ywi.2	-	c.2245A>C	c.(2245-2247)ACC>CCC	p.T749P	FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	749							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)													0.233333	7.016485	9.080884	7	23	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(115;0.0493)		Missense_Mutation	SNP	142546758	142546758	6170	8	T	G	G	59	59	FLJ43860	G	4	4
PCM1	5108	broad.mit.edu	36	8	17915810	17915810	+	Missense_Mutation	SNP	G	A	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:17915810G>A	uc003wyi.2	+	c.5569G>A	c.(5569-5571)GAA>AAA	p.E1857K	PCM1_uc003wyj.2_Intron|PCM1_uc003wyk.2_Missense_Mutation_p.E539K	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1857				PLEREATSKNDQ -> HWNEKPLVKMTK (in Ref. 1; AAA60120).	centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|ovary(2)|breast(1)	33									p.E1857K(SNUC2A-Tumor)	797				0.24	6.914838	8.592968	6	19	GG		KEEP	---	---	---	---	capture		Colorectal(111;0.0789)	Missense_Mutation	SNP	17915810	17915810	12004	8	G	A	A	33	33	PCM1	A	2	2
DOCK5	80005	broad.mit.edu	36	8	25246120	25246120	+	Missense_Mutation	SNP	G	A	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:25246120G>A	uc003xeg.1	+	c.2086G>A	c.(2086-2088)GCA>ACA	p.A696T	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xei.1_Missense_Mutation_p.A266T|DOCK5_uc003xej.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.A410T	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	696						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)				Pancreas(145;34 1887 3271 10937 30165)								0.339286	53.606044	54.8857	19	37	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	Missense_Mutation	SNP	25246120	25246120	4874	8	G	A	A	38	38	DOCK5	A	1	1
DOCK5	80005	broad.mit.edu	36	8	25281649	25281649	+	Silent	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:25281649C>T	uc003xeg.1	+	c.3249C>T	c.(3247-3249)ATC>ATT	p.I1083I	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xei.1_Silent_p.I653I|DOCK5_uc003xej.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.I797I	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1083						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)				Pancreas(145;34 1887 3271 10937 30165)								0.342857	35.191616	35.95411	12	23	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	Silent	SNP	25281649	25281649	4874	8	C	T	T	31	31	DOCK5	T	1	1
UHRF2	115426	broad.mit.edu	36	9	6403501	6403501	+	Missense_Mutation	SNP	A	G	G			TCGA-28-1753-01	TCGA-28-1753-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:6403501A>G	uc003zjy.1	+	c.11A>G	c.(10-12)CAG>CGG	p.Q4R	UHRF2_uc003zjz.1_Non-coding_Transcript	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	4	Ubiquitin-like.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(23;0.158)												0.28125	46.217817	48.974986	18	46	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	Missense_Mutation	SNP	6403501	6403501	17528	9	A	G	G	7	7	UHRF2	G	4	4
IPPK	64768	broad.mit.edu	36	9	94440350	94440350	+	Missense_Mutation	SNP	G	A	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:94440350G>A	uc004asl.1	-	c.670C>T	c.(670-672)CGG>TGG	p.R224W	IPPK_uc004ask.1_5'Flank	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	224					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2														0.263158	44.727771	48.548263	20	56	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	94440350	94440350	8102	9	G	A	A	39	39	IPPK	A	1	1
NXF3	56000	broad.mit.edu	36	X	102223869	102223869	+	Missense_Mutation	SNP	G	A	A			TCGA-28-1753-01	TCGA-28-1753-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:102223869G>A	uc004eju.1	-	c.860C>T	c.(859-861)ACG>ATG	p.T287M	NXF3_uc010noi.1_Missense_Mutation_p.T137M	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	287						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.626168	435.199131	438.19234	134	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102223869	102223869	11190	23	G	A	A	40	40	NXF3	A	1	1
GDPD2	54857	broad.mit.edu	36	X	69569009	69569009	+	Missense_Mutation	SNP	C	T	T			TCGA-28-1753-01	TCGA-28-1753-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69569009C>T	uc004dyh.1	+	c.1435C>T	c.(1435-1437)CGT>TGT	p.R479C	GDPD2_uc010nky.1_3'UTR	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN	osteoblast differentiation promoting factor	479	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			ovary(2)	2	Renal(35;0.156)													0.597122	250.861441	252.024295	83	56	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69569009	69569009	6592	23	C	T	T	27	27	GDPD2	T	1	1
CDKN2C	1031	broad.mit.edu	36	1	51212171	51212171	+	Frame_Shift_Del	DEL	C	-	-			TCGA-28-1753-01	TCGA-28-1753-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:51212171_51212171delC	uc001csf.1	+	c.148_148delC	c.(148-150)CCCfs	p.P50fs	CDKN2C_uc001csg.1_Frame_Shift_Del_p.P50fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C	50	ANK 2.				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(6)|p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1)	17				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		Melanoma(47;50 1155 4767 22863 47597)				40				0.31			76	166				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	51212171	51212171	3294	1	C	-	-	30	30	CDKN2C	-	5	5
