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
CTBP2	1488	broad.mit.edu	36	10	126681648	126681648	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:126681648C>T	uc001lie.2	-	c.1849G>A	c.(1849-1851)GTG>ATG	p.V617M	CTBP2_uc009yak.1_Missense_Mutation_p.V77M|CTBP2_uc009yal.1_Missense_Mutation_p.V77M|CTBP2_uc001lif.2_Missense_Mutation_p.V77M|CTBP2_uc001lih.2_Missense_Mutation_p.V77M|CTBP2_uc001lid.2_Missense_Mutation_p.V145M	NM_022802	NP_073713	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 2	77					negative regulation of cell proliferation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|transcription repressor activity				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)								463				0.422535	86.838035	87.209679	30	41	CC		KEEP	---	---	---	---	capture		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	Missense_Mutation	SNP	126681648	126681648	4157	10	C	T	T	19	19	CTBP2	T	1	1
RBP3	5949	broad.mit.edu	36	10	48009552	48009552	+	Silent	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:48009552G>A	uc001jez.1	-	c.1332C>T	c.(1330-1332)TTC>TTT	p.F444F		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	444	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)									0.410714	65.71335	66.103538	23	33	GG		KEEP	---	---	---	---	capture			Silent	SNP	48009552	48009552	13626	10	G	A	A	37	37	RBP3	A	1	1
OR5M9	390162	broad.mit.edu	36	11	55987232	55987232	+	Silent	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55987232G>A	uc001niv.1	-	c.222C>T	c.(220-222)AAC>AAT	p.N74N		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	74	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(21;0.00448)													0.309524	68.719534	71.434588	26	58	GG		KEEP	---	---	---	---	capture			Silent	SNP	55987232	55987232	11587	11	G	A	A	40	40	OR5M9	A	1	1
BTBD11	121551	broad.mit.edu	36	12	106537963	106537963	+	Silent	SNP	C	A	A			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:106537963C>A	uc001tmk.1	+	c.2523C>A	c.(2521-2523)CTC>CTA	p.L841L	BTBD11_uc009zut.1_Silent_p.L722L|BTBD11_uc001tmj.2_Silent_p.L841L|BTBD11_uc001tml.1_Silent_p.L378L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	841	ANK 5.					integral to membrane	DNA binding			ovary(1)	1														0.302632	55.483539	58.134432	23	53	CC		KEEP	---	---	---	---	capture			Silent	SNP	106537963	106537963	1571	12	C	A	A	29	29	BTBD11	A	3	3
B4GALNT3	283358	broad.mit.edu	36	12	527661	527661	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:527661C>T	uc001qii.1	+	c.790C>T	c.(790-792)CGA>TGA	p.R264*	B4GALNT3_uc001qij.1_Nonsense_Mutation_p.R166*	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	264	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity				0	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)													0.292035	81.044471	85.413339	33	80	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		Nonsense_Mutation	SNP	527661	527661	1289	12	C	T	T	27	27	B4GALNT3	T	5	1
FAM48A	55578	broad.mit.edu	36	13	36505599	36505599	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:36505599G>A	uc001uwk.1	-	c.694C>T	c.(694-696)CGC>TGC	p.R232C	FAM48A_uc010abt.1_Missense_Mutation_p.R233C|FAM48A_uc001uwg.1_Missense_Mutation_p.R232C|FAM48A_uc001uwh.1_Missense_Mutation_p.R233C|FAM48A_uc001uwi.1_Missense_Mutation_p.R232C|FAM48A_uc001uwj.1_Missense_Mutation_p.R233C|FAM48A_uc001uwl.1_Missense_Mutation_p.R232C	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	232					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)												0.348774	357.4681	364.88408	128	239	GG		KEEP	---	---	---	---	capture		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	Missense_Mutation	SNP	36505599	36505599	5794	13	G	A	A	37	37	FAM48A	A	1	1
MDP1	145553	broad.mit.edu	36	14	23753191	23753191	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23753191G>A	uc001wnl.1	-	c.410C>T	c.(409-411)ACC>ATC	p.T137I	CHMP4A_uc001wni.1_5'Flank|CHMP4A_uc001wnj.1_5'UTR|MDP1_uc001wnk.1_3'UTR|CHMP4A_uc001wnm.1_Silent_p.Y90Y	NM_138476	NP_612485	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	137							metal ion binding|protein tyrosine phosphatase activity				0														0.444444	201.471245	201.883832	68	85	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23753191	23753191	9805	14	G	A	A	44	44	MDP1	A	2	2
SERPINA1	5265	broad.mit.edu	36	14	93917197	93917197	+	Silent	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:93917197G>A	uc001ycx.2	-	c.681C>T	c.(679-681)ACC>ACT	p.T227T	SERPINA1_uc001ycw.2_Non-coding_Transcript|SERPINA1_uc010auw.1_Silent_p.T227T|SERPINA1_uc010aux.1_Silent_p.T227T|SERPINA1_uc001ycy.2_Silent_p.T227T|SERPINA1_uc010auy.1_Silent_p.T227T|SERPINA1_uc001ycz.2_Silent_p.T227T|SERPINA1_uc010auz.1_Silent_p.T227T|SERPINA1_uc010ava.1_Silent_p.T227T|SERPINA1_uc001ydb.2_Silent_p.T227T|SERPINA1_uc010avb.1_Silent_p.T227T|SERPINA1_uc001ydc.2_Silent_p.T227T|SERPINA1_uc001yda.1_Silent_p.T227T	NM_000295	NP_001121179	P01009	A1AT_HUMAN	serine proteinase inhibitor, clade A, member 1	227					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			skin(1)	1		all_cancers(154;0.0649)|all_epithelial(191;0.223)			Alpha-1-proteinase inhibitor(DB00058)									0.604651	84.758254	85.170774	26	17	GG		KEEP	---	---	---	---	capture		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Silent	SNP	93917197	93917197	14574	14	G	A	A	39	39	SERPINA1	A	1	1
HHIPL1	84439	broad.mit.edu	36	14	99188468	99188468	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:99188468C>T	uc010avs.1	+	c.410C>T	c.(409-411)GCG>GTG	p.A137V	HHIPL1_uc001ygl.1_Missense_Mutation_p.A137V	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	HHIP-like protein 1 isoform a	137					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity				0		Melanoma(154;0.128)												0.472222	95.541641	95.590023	34	38	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99188468	99188468	7377	14	C	T	T	27	27	HHIPL1	T	1	1
EIF2AK4	440275	broad.mit.edu	36	15	38035122	38035122	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38035122G>T	uc001zkm.1	+	c.604G>T	c.(604-606)GAA>TAA	p.E202*	EIF2AK4_uc001zkl.2_Nonsense_Mutation_p.E202*|EIF2AK4_uc010bbj.1_5'UTR	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	202					protein phosphorylation|translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)								876				0.205882	56.716364	67.633203	28	108	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	Nonsense_Mutation	SNP	38035122	38035122	5188	15	G	T	T	41	41	EIF2AK4	T	5	3
PIAS1	8554	broad.mit.edu	36	15	66255895	66255895	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:66255895G>T	uc002aqz.1	+	c.1330G>T	c.(1330-1332)GTA>TTA	p.V444L	PIAS1_uc002ara.1_Missense_Mutation_p.V52L	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	444					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1														0.275281	130.508504	138.59672	49	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	66255895	66255895	12299	15	G	T	T	44	44	PIAS1	T	3	3
C15orf58	390637	broad.mit.edu	36	15	88585831	88585831	+	Silent	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:88585831C>T	uc002bpc.1	+	c.687C>T	c.(685-687)CCC>CCT	p.P229P	C15orf58_uc010bnw.1_Silent_p.P229P	NM_001013657	NP_001013679	Q6ZNW5	CO058_HUMAN	hypothetical protein LOC390637	229											0														0.35443	74.777159	76.208014	28	51	CC		KEEP	---	---	---	---	capture			Silent	SNP	88585831	88585831	1856	15	C	T	T	23	23	C15orf58	T	1	1
CDYL2	124359	broad.mit.edu	36	16	79276069	79276069	+	Silent	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:79276069G>A	uc002ffs.1	-	c.483C>T	c.(481-483)GCC>GCT	p.A161A		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	161					chromatin assembly or disassembly	chromatin|nucleus	catalytic activity|chromatin binding|protein binding			central_nervous_system(1)	1														0.235294	107.118418	119.092995	44	143	GG		KEEP	---	---	---	---	capture			Silent	SNP	79276069	79276069	3319	16	G	A	A	39	39	CDYL2	A	1	1
SPIRE2	84501	broad.mit.edu	36	16	88464080	88464080	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0644-01	TCGA-06-0644-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:88464080T>C	uc002foz.1	+	c.2044T>C	c.(2044-2046)TCC>CCC	p.S682P	SPIRE2_uc010ciw.1_Missense_Mutation_p.S634P|SPIRE2_uc002fpa.1_Missense_Mutation_p.S634P|SPIRE2_uc010cix.1_Missense_Mutation_p.S549P	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	682					transport	cytoplasm|cytoskeleton	actin binding|zinc ion binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)												0.222222	6.596759	7.871478	4	14	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(80;0.0286)	Missense_Mutation	SNP	88464080	88464080	15585	16	T	C	C	62	62	SPIRE2	C	4	4
ABCA10	10349	broad.mit.edu	36	17	64660198	64660198	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:64660198C>T	uc010dfa.1	-	c.4156G>A	c.(4156-4158)GTT>ATT	p.V1386I	ABCA10_uc002jhz.2_5'Flank	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1386	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;6.95e-12)													0.152381	24.847452	36.980882	16	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	64660198	64660198	30	17	C	T	T	19	19	ABCA10	T	1	1
TP53	7157	broad.mit.edu	36	17	7518915	7518915	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0644-01	TCGA-06-0644-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7518915T>C	uc002gim.2	-	c.659A>G	c.(658-660)TAT>TGT	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.1_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	220	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and 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.Y220C(194)|p.Y220S(9)|p.0?(6)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.Y220H(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		111	p.Y220C(HCC2935-Tumor)|p.Y220C(BXPC3-Tumor)|p.Y220C(HCC366-Tumor)|p.Y220C(TE8-Tumor)|p.Y220C(NUGC3-Tumor)|p.Y220C(HUH7-Tumor)|p.Y220C(COV362-Tumor)|p.Y220C(HCC1419-Tumor)|p.Y220C(MFE319-Tumor)|p.Y220C(T3M4-Tumor)|p.Y220C(NCIH2342-Tumor)|p.Y220C(MFE296-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.316667	55.806198	57.598095	19	41	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7518915	7518915	16923	17	T	C	C	49	49	TP53	C	4	4
MYOM1	8736	broad.mit.edu	36	18	3124669	3124669	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0644-01	TCGA-06-0644-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:3124669T>C	uc002klp.1	-	c.2363A>G	c.(2362-2364)AAC>AGC	p.N788S	MYOM1_uc002klq.1_Missense_Mutation_p.N788S	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	788	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5														0.230769	27.583171	31.036044	12	40	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	3124669	3124669	10486	18	T	C	C	60	60	MYOM1	C	4	4
CDH7	1005	broad.mit.edu	36	18	61627983	61627983	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0644-01	TCGA-06-0644-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:61627983A>G	uc002ljz.1	+	c.274A>G	c.(274-276)AGT>GGT	p.S92G	CDH7_uc002lka.2_Missense_Mutation_p.S92G|CDH7_uc002lkb.1_Missense_Mutation_p.S92G	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	92	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.129)												0.148649	42.551676	60.085743	22	126	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	61627983	61627983	3244	18	A	G	G	3	3	CDH7	G	4	4
REXO1	57455	broad.mit.edu	36	19	1767329	1767329	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:1767329C>T	uc002lua.2	-	c.3472G>A	c.(3472-3474)GTG>ATG	p.V1158M		NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	1158	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)												0.3	7.520966	7.87845	3	7	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Missense_Mutation	SNP	1767329	1767329	13711	19	C	T	T	19	19	REXO1	T	1	1
SARS2	54938	broad.mit.edu	36	19	44100215	44100215	+	Silent	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44100215G>A	uc002oka.1	-	c.1149C>T	c.(1147-1149)GGC>GGT	p.G383G	SARS2_uc002ojz.1_Silent_p.G193G|SARS2_uc002okb.1_Silent_p.G383G	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2	383					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)	2	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)													0.320896	114.433508	118.277005	43	91	GG		KEEP	---	---	---	---	capture	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		Silent	SNP	44100215	44100215	14326	19	G	A	A	34	34	SARS2	A	2	2
IL4I1	259307	broad.mit.edu	36	19	55089400	55089400	+	Silent	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55089400G>A	uc002pqu.1	-	c.570C>T	c.(568-570)TAC>TAT	p.Y190Y	IL4I1_uc002pqw.1_Silent_p.Y190Y|IL4I1_uc002pqv.1_Silent_p.Y177Y|IL4I1_uc010eno.1_Silent_p.Y176Y|IL4I1_uc002pqt.1_Silent_p.Y168Y	NM_172374	NP_758962	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 2	168					oxidation-reduction process	lysosome	L-amino-acid oxidase activity			ovary(1)	1		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)												0.333333	72.903471	74.893388	27	54	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Silent	SNP	55089400	55089400	7998	19	G	A	A	40	40	IL4I1	A	1	1
OR2Z1	284383	broad.mit.edu	36	19	8702802	8702802	+	Missense_Mutation	SNP	C	T	T	rs58741481	by-1000genomes	TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8702802C>T	uc002mkm.1	+	c.412C>T	c.(412-414)CGC>TGC	p.R138C		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.278261	159.093194	169.273235	64	166	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8702802	8702802	11442	19	C	T	T	19	19	OR2Z1	T	1	1
UBE4B	10277	broad.mit.edu	36	1	10115055	10115055	+	Silent	SNP	C	G	G			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:10115055C>G	uc001aqs.2	+	c.1953C>G	c.(1951-1953)GGC>GGG	p.G651G	UBE4B_uc001aqr.2_Silent_p.G522G|UBE4B_uc001aqt.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	651					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(1)	3		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)												0.219178	44.860945	50.163612	16	57	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	Silent	SNP	10115055	10115055	17441	1	C	G	G	27	27	UBE4B	G	3	3
BCL9	607	broad.mit.edu	36	1	145558977	145558977	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:145558977C>T	uc001epq.1	+	c.2392C>T	c.(2392-2394)CGG>TGG	p.R798W	NBPF11_uc009wjd.1_Intron|NBPF11_uc009wje.1_Intron	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	798	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			large_intestine(2)|ovary(2)	4	all_hematologic(923;0.115)									202				0.155556	10.39706	15.496755	7	38	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145558977	145558977	1402	1	C	T	T	27	27	BCL9	T	1	1
CADM3	57863	broad.mit.edu	36	1	157426197	157426197	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0644-01	TCGA-06-0644-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:157426197A>G	uc001ftk.2	+	c.101A>G	c.(100-102)GAG>GGG	p.E34G	CADM3_uc009wsx.1_Missense_Mutation_p.E34G|CADM3_uc009wsy.1_Intron|CADM3_uc001ftl.2_Intron	NM_021189	NP_067012	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 1	29	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)													0.263158	6.958426	7.932561	5	14	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	157426197	157426197	2684	1	A	G	G	11	11	CADM3	G	4	4
UBR4	23352	broad.mit.edu	36	1	19304852	19304852	+	Silent	SNP	A	G	G			TCGA-06-0644-01	TCGA-06-0644-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:19304852A>G	uc001bbi.1	-	c.12465T>C	c.(12463-12465)ATT>ATC	p.I4155I	UBR4_uc001bbg.1_5'Flank|UBR4_uc001bbh.1_5'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4155					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)	23		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)												0.266667	8.723915	9.442547	4	11	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	Silent	SNP	19304852	19304852	17462	1	A	G	G	9	9	UBR4	G	4	4
CFHR4	10877	broad.mit.edu	36	1	195150739	195150739	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:195150739C>A	uc001gtp.1	+	c.1388C>A	c.(1387-1389)CCT>CAT	p.P463H	CFHR4_uc001gto.1_Missense_Mutation_p.P216H|CFHR4_uc009wyy.1_Missense_Mutation_p.P462H	NM_006684		Q92496	FHR4_HUMAN	complement factor H-related 4	216	Sushi 4.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)	2														0.278195	95.412286	101.30246	37	96	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	195150739	195150739	3420	1	C	A	A	24	24	CFHR4	A	3	3
CENPF	1063	broad.mit.edu	36	1	212882459	212882459	+	Silent	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:212882459C>T	uc001hkm.1	+	c.4155C>T	c.(4153-4155)GAC>GAT	p.D1385D		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1482	1-1.|2 X 96 AA approximate tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12						Colon(80;575 1284 11000 14801 43496)								0.323529	87.038973	89.859078	33	69	CC		KEEP	---	---	---	---	capture		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	Silent	SNP	212882459	212882459	3364	1	C	T	T	19	19	CENPF	T	1	1
GRIK3	2899	broad.mit.edu	36	1	37080115	37080115	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:37080115C>T	uc001caz.2	-	c.1339G>A	c.(1339-1341)GTC>ATC	p.V447I	GRIK3_uc001cba.1_Missense_Mutation_p.V447I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	447	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|large_intestine(1)|breast(1)	5		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)									0.34375	239.229202	244.746467	88	168	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37080115	37080115	7054	1	C	T	T	19	19	GRIK3	T	1	1
C1orf175	374977	broad.mit.edu	36	1	54921017	54921017	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54921017G>A	uc001cxp.1	+	c.2482G>A	c.(2482-2484)GTC>ATC	p.V828I	C1orf175_uc001cxq.1_Non-coding_Transcript|C1orf175_uc001cxr.1_Non-coding_Transcript|C1orf175_uc001cxs.1_Non-coding_Transcript|C1orf175_uc001cxt.1_Non-coding_Transcript|C1orf175_uc009vzq.1_Intron|C1orf175_uc009vzr.1_Missense_Mutation_p.V30I	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	828						integral to membrane	binding				0														0.347518	130.327672	133.223504	49	92	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	54921017	54921017	2083	1	G	A	A	40	40	C1orf175	A	1	1
COL24A1	255631	broad.mit.edu	36	1	86112922	86112922	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:86112922G>A	uc001dlj.1	-	c.3136C>T	c.(3136-3138)CGG>TGG	p.R1046W	COL24A1_uc001dli.1_Missense_Mutation_p.R182W|COL24A1_uc001dlk.1_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1046	Collagen-like 9.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4														0.180556	25.23374	32.140233	13	59	GG		KEEP	---	---	---	---	capture		all cancers(265;0.0627)|Epithelial(280;0.0689)	Missense_Mutation	SNP	86112922	86112922	3821	1	G	A	A	40	40	COL24A1	A	1	1
C20orf71	128861	broad.mit.edu	36	20	31277958	31277958	+	Splice_Site_SNP	SNP	G	T	T			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31277958G>T	uc002wyr.1	+	c.621_splice	c.e5+1	p.Q207_splice	C20orf71_uc002wys.1_Splice_Site_SNP_p.Q171_splice	NM_178466	NP_848561			short long palate, lung and nasal epithelium							extracellular region	lipid binding			ovary(1)	1														0.268519	79.624749	84.849637	29	79	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	31277958	31277958	2197	20	G	T	T	44	44	C20orf71	T	5	3
PTPRT	11122	broad.mit.edu	36	20	40740088	40740088	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0644-01	TCGA-06-0644-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:40740088T>C	uc010ggj.1	-	c.985A>G	c.(985-987)ACC>GCC	p.T329A	PTPRT_uc002xkg.1_Missense_Mutation_p.T329A	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	329	Extracellular (Potential).|Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.264045	109.871887	118.816564	47	131	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40740088	40740088	13270	20	T	C	C	59	59	PTPRT	C	4	4
OLIG2	10215	broad.mit.edu	36	21	33321402	33321402	+	Missense_Mutation	SNP	T	A	A			TCGA-06-0644-01	TCGA-06-0644-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr21:33321402T>A	uc002yqx.1	+	c.362T>A	c.(361-363)ATG>AAG	p.M121K	OLIG2_uc002yqy.2_Missense_Mutation_p.M121K	NM_005806	NP_005797	Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	121	Helix-loop-helix motif.					cytoplasm|nucleus|plasma membrane	DNA binding|transcription regulator activity			central_nervous_system(2)	2										15				0.285714	16.642454	17.507063	6	15	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33321402	33321402	11266	21	T	A	A	51	51	OLIG2	A	4	4
FAM123C	205147	broad.mit.edu	36	2	131237413	131237413	+	Missense_Mutation	SNP	C	A	A			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:131237413C>A	uc002trw.2	+	c.1298C>A	c.(1297-1299)CCT>CAT	p.P433H	FAM123C_uc010fms.1_Missense_Mutation_p.P433H|FAM123C_uc010fmt.1_Missense_Mutation_p.P433H|FAM123C_uc010fmu.1_Missense_Mutation_p.P433H|FAM123C_uc010fmv.1_Missense_Mutation_p.P433H	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	433										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)													0.330189	90.883273	93.595285	35	71	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.13)	Missense_Mutation	SNP	131237413	131237413	5621	2	C	A	A	24	24	FAM123C	A	3	3
COPS8	10920	broad.mit.edu	36	2	237659360	237659360	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0644-01	TCGA-06-0644-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:237659360T>G	uc002vwh.1	+	c.14T>G	c.(13-15)GTG>GGG	p.V5G	COPS8_uc010fys.1_Non-coding_Transcript|COPS8_uc002vwg.1_5'UTR|COPS8_uc002vwi.1_Missense_Mutation_p.V5G	NM_006710	NP_937832	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8 isoform 1	5						cytoplasm|signalosome				ovary(1)	1		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)												0.5	7.990706	7.990706	4	4	TT		KEEP	---	---	---	---	capture		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)	Missense_Mutation	SNP	237659360	237659360	3878	2	T	G	G	59	59	COPS8	G	4	4
GKN1	56287	broad.mit.edu	36	2	69060625	69060625	+	Missense_Mutation	SNP	T	A	A			TCGA-06-0644-01	TCGA-06-0644-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:69060625T>A	uc002sfc.1	+	c.434T>A	c.(433-435)CTG>CAG	p.L145Q		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	18 kDa antrum mucosa protein	145	BRICHOS.				digestion|positive regulation of cell division	extracellular region				breast(1)	1														0.308642	141.492695	146.777607	50	112	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69060625	69060625	6692	2	T	A	A	55	55	GKN1	A	4	4
LRIG1	26018	broad.mit.edu	36	3	66532107	66532107	+	Silent	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:66532107C>T	uc003dmx.1	-	c.1209G>A	c.(1207-1209)TCG>TCA	p.S403S	LRIG1_uc010hnz.1_Intron|LRIG1_uc010hoa.1_Silent_p.S427S|LRIG1_uc003dmw.1_Silent_p.S69S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	403	Extracellular (Potential).|LRR 14.					integral to membrane				ovary(2)|skin(1)	3		Lung NSC(201;0.0101)												0.269841	43.473305	46.468047	17	46	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(55;0.00047)	Silent	SNP	66532107	66532107	9317	3	C	T	T	23	23	LRIG1	T	1	1
KIT	3815	broad.mit.edu	36	4	55256515	55256515	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:55256515G>A	uc010igr.1	+	c.148G>A	c.(148-150)GTG>ATG	p.V50M	KIT_uc010igs.1_Missense_Mutation_p.V50M	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	50	Extracellular (Potential).|Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.V50M(1)		soft_tissue(3041)|haematopoietic_and_lymphoid_tissue(1544)|skin(98)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(10)|lung(6)|thymus(5)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	4855	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)				Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			1		431				0.354545	103.892582	105.943792	39	71	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Missense_Mutation	SNP	55256515	55256515	8641	4	G	A	A	40	40	KIT	A	1	1
NUDT9	53343	broad.mit.edu	36	4	88582008	88582008	+	Silent	SNP	T	C	C			TCGA-06-0644-01	TCGA-06-0644-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:88582008T>C	uc003hqq.1	+	c.447T>C	c.(445-447)AAT>AAC	p.N149N	NUDT9_uc003hqr.1_Silent_p.N99N|NUDT9_uc010ikl.1_Silent_p.N117N	NM_024047	NP_932155	Q9BW91	NUDT9_HUMAN	nudix -type motif 9 isoform a	149						mitochondrion	ADP-ribose diphosphatase activity				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)												0.183673	20.550297	25.147485	9	40	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	Silent	SNP	88582008	88582008	11151	4	T	C	C	50	50	NUDT9	C	4	4
DRD5	1816	broad.mit.edu	36	4	9393109	9393109	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:9393109G>A	uc003gmb.2	+	c.358G>A	c.(358-360)GAC>AAC	p.D120N		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	120	Helical; Name=3; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane					0					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)									0.304348	53.749154	56.105885	21	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9393109	9393109	4944	4	G	A	A	37	37	DRD5	A	1	1
FBN2	2201	broad.mit.edu	36	5	127740344	127740344	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:127740344G>C	uc003kuu.1	-	c.1951C>G	c.(1951-1953)CCA>GCA	p.P651A		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	651	EGF-like 9; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)								1552				0.279793	164.967345	173.381833	54	139	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	Missense_Mutation	SNP	127740344	127740344	5939	5	G	C	C	41	41	FBN2	C	3	3
PCDHB11	56125	broad.mit.edu	36	5	140560705	140560705	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140560705G>A	uc003liy.1	+	c.1174G>A	c.(1174-1176)GTG>ATG	p.V392M		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	392	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(2)	2														0.310044	186.3379	193.700743	71	158	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Missense_Mutation	SNP	140560705	140560705	11956	5	G	A	A	40	40	PCDHB11	A	1	1
PRDM9	56979	broad.mit.edu	36	5	23560256	23560256	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0644-01	TCGA-06-0644-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:23560256A>T	uc003jgo.1	+	c.1007A>T	c.(1006-1008)CAC>CTC	p.H336L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	336	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.333333	65.837428	67.57908	24	48	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23560256	23560256	12906	5	A	T	T	6	6	PRDM9	T	4	4
CDH9	1007	broad.mit.edu	36	5	26942664	26942664	+	Silent	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:26942664G>A	uc003jgs.1	-	c.564C>T	c.(562-564)GAC>GAT	p.D188D	CDH9_uc010iug.1_Silent_p.D188D	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	188	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.319444	60.599819	62.685477	23	49	GG		KEEP	---	---	---	---	capture			Silent	SNP	26942664	26942664	3246	5	G	A	A	40	40	CDH9	A	1	1
PTPRK	5796	broad.mit.edu	36	6	128361675	128361675	+	Silent	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:128361675C>T	uc010kfc.1	-	c.2562G>A	c.(2560-2562)GGG>GGA	p.G854G	PTPRK_uc003qbj.1_Silent_p.G854G|PTPRK_uc003qbk.1_Silent_p.G853G|PTPRK_uc010kfd.1_Silent_p.G79G	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	853	Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8														0.336634	94.923547	97.305696	34	67	CC		KEEP	---	---	---	---	capture		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	Silent	SNP	128361675	128361675	13262	6	C	T	T	30	30	PTPRK	T	2	2
PRSS16	10279	broad.mit.edu	36	6	27327591	27327591	+	Silent	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:27327591G>A	uc003nja.1	+	c.801G>A	c.(799-801)ACG>ACA	p.T267T	PRSS16_uc003njb.1_Intron|PRSS16_uc010jqq.1_Intron|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc003njd.1_Non-coding_Transcript	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	protease, serine, 16	267					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			ovary(2)|central_nervous_system(2)	4						NSCLC(178;1118 2105 17078 23587 44429)								0.138889	14.504322	23.577434	10	62	GG		KEEP	---	---	---	---	capture			Silent	SNP	27327591	27327591	13066	6	G	A	A	39	39	PRSS16	A	1	1
HTR1E	3354	broad.mit.edu	36	6	87782207	87782207	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:87782207G>A	uc003plg.1	+	c.436G>A	c.(436-438)GTC>ATC	p.V146I	HTR1E_uc003plh.1_Missense_Mutation_p.V146I|HTR1E_uc003pli.1_Missense_Mutation_p.V146I|HTR1E_uc010kbt.1_Missense_Mutation_p.V146I	NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	146	Helical; Name=4; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)	2		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)			Eletriptan(DB00216)									0.145161	39.353804	61.848189	27	159	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.055)	Missense_Mutation	SNP	87782207	87782207	7739	6	G	A	A	40	40	HTR1E	A	1	1
RELN	5649	broad.mit.edu	36	7	102924350	102924350	+	Nonsense_Mutation	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:102924350G>A	uc003vca.1	-	c.9052C>T	c.(9052-9054)CGA>TGA	p.R3018*	RELN_uc010liz.1_Nonsense_Mutation_p.R3018*	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3018					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14						NSCLC(146;835 1944 15585 22231 52158)								0.215385	92.324571	106.848206	42	153	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	Nonsense_Mutation	SNP	102924350	102924350	13689	7	G	A	A	37	37	RELN	A	5	1
BRAF	673	broad.mit.edu	36	7	140099605	140099605	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0644-01	TCGA-06-0644-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:140099605A>T	uc003vwc.2	-	c.1799T>A	c.(1798-1800)GTG>GAG	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15573)|p.V600?(188)|p.V600K(165)|p.V600R(36)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_R603>I(2)|p.V600_W604del(1)|p.V600L(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insT(1)|p.T599_V600insDFGLAT(1)	KIAA1549/BRAF(211)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(7681)|large_intestine(4665)|skin(3221)|NS(366)|central_nervous_system(264)|ovary(219)|lung(77)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(27)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(16)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	16798	Melanoma(164;0.00956)				Sorafenib(DB00398)	Colon(40;35 892 2973 5743 27438)	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61	p.V600E(G361-Tumor)|p.V600E(HT144-Tumor)|p.V600E(MDAMB361-Tumor)|p.V600E(COLO783-Tumor)|p.V600E(COLO201-Tumor)|p.V600E(8505C-Tumor)|p.V600E(COLO205-Tumor)|p.V600E(A673-Tumor)|p.V600E(WM88-Tumor)|p.V600E(LOXIMVI-Tumor)|p.V600D(WM2664-Tumor)|p.V600K(MDST8-Tumor)|p.V600E(HT29-Tumor)|p.V600E(CL34-Tumor)|p.V600E(COLO818-Tumor)|p.V600E(COLO741-Tumor)|p.V600E(LS411N-Tumor)|p.V600E(SKMEL28-Tumor)|p.V600E(NMCG1-Tumor)|p.V600E(MELHO-Tumor)|p.V600E(WM983B-Tumor)|p.V600E(OUMS23-Tumor)|p.V600E(NCIH854-Tumor)|p.V600E(IGR39-Tumor)|p.V600E(SKHEP1-Tumor)|p.V600E(COLO679-Tumor)|p.V600E(SKMEL5-Tumor)|p.V600E(UACC257-Tumor)|p.V600E(HS695T-Tumor)|p.V600E(A375-Tumor)|p.V600E(MALME3M-Tumor)|p.V600E(AM38-Tumor)|p.V600E(SIGM5-Tumor)|p.V600E(DBTRG05MG-Tumor)|p.V600E(8305C-Tumor)|p.V600E(SKMEL24-Tumor)|p.V600E(WM793-Tumor)|p.V600E(BCPAP-Tumor)|p.V600D(WM115-Tumor)|p.V600E(SNUC5-Tumor)|p.V600E(GCT-Tumor)|p.V600E(ES2-Tumor)|p.V600E(SW1417-Tumor)|p.V600E(MDAMB435S-Tumor)|p.V600E(HS294T-Tumor)|p.V600E(DU4475-Tumor)|p.V600E(C32-Tumor)|p.V600E(A101D-Tumor)|p.V600E(COLO829-Tumor)|p.V600E(SKMEL3-Tumor)|p.V600E(SKMEL1-Tumor)|p.V600E(WM1799-Tumor)|p.V600E(RKO-Tumor)|p.V600E(IGR37-Tumor)|p.V600E(K029AX-Tumor)|p.V600E(JHOM2B-Tumor)|p.V600E(SH4-Tumor)	451				0.161137	67.520637	90.568874	34	177	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140099605	140099605	1527	7	A	T	T	6	6	BRAF	T	4	4
WDR86	349136	broad.mit.edu	36	7	150724172	150724172	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150724172G>A	uc003wkb.2	-	c.349C>T	c.(349-351)CGG>TGG	p.R117W	WDR86_uc003wka.2_Missense_Mutation_p.R75W|WDR86_uc003wkc.2_5'UTR	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	117	WD 3.										0														0.198718	67.340052	80.516857	31	125	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Missense_Mutation	SNP	150724172	150724172	17907	7	G	A	A	39	39	WDR86	A	1	1
GRB10	2887	broad.mit.edu	36	7	50628255	50628255	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0644-01	TCGA-06-0644-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr7:50628255T>C	uc003tpi.1	-	c.1673A>G	c.(1672-1674)GAT>GGT	p.D558G	GRB10_uc003tph.2_Missense_Mutation_p.D500G|GRB10_uc003tpj.1_Missense_Mutation_p.D512G|GRB10_uc003tpk.1_Missense_Mutation_p.D558G|GRB10_uc010kzb.1_Missense_Mutation_p.D500G|GRB10_uc003tpl.1_Missense_Mutation_p.D552G|GRB10_uc003tpm.1_Missense_Mutation_p.D500G|GRB10_uc003tpn.1_Missense_Mutation_p.D500G	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	558	SH2.				insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			upper_aerodigestive_tract(1)|ovary(1)	2	Glioma(55;0.08)|all_neural(89;0.245)													0.171053	91.792498	115.109506	39	189	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50628255	50628255	7033	7	T	C	C	50	50	GRB10	C	4	4
PCLO	27445	broad.mit.edu	36	7	82382840	82382840	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:82382840C>T	uc003uhx.2	-	c.12398G>A	c.(12397-12399)CGT>CAT	p.R4133H	PCLO_uc003uhv.2_Missense_Mutation_p.R4133H|PCLO_uc010lec.1_Missense_Mutation_p.R1098H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4064					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.190083	93.715429	115.446405	46	196	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	82382840	82382840	12003	7	C	T	T	19	19	PCLO	T	1	1
ABCB4	5244	broad.mit.edu	36	7	86921831	86921831	+	Silent	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:86921831C>T	uc003uiv.1	-	c.300G>A	c.(298-300)TTG>TTA	p.L100L	ABCB4_uc003uiw.1_Silent_p.L100L|ABCB4_uc003uix.1_Silent_p.L100L|ABCB4_uc003uiy.1_Silent_p.L100L	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	100	Extracellular (By similarity).|ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|pancreas(1)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)													0.16	12.463795	17.97308	8	42	CC		KEEP	---	---	---	---	capture			Silent	SNP	86921831	86921831	44	7	C	T	T	17	17	ABCB4	T	2	2
RIMS2	9699	broad.mit.edu	36	8	104778579	104778579	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:104778579C>T	uc003ylp.2	+	c.266C>T	c.(265-267)GCG>GTG	p.A89V		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	120	FYVE-type.|RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14										728				0.243243	56.501445	63.155128	27	84	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		Missense_Mutation	SNP	104778579	104778579	13845	8	C	T	T	27	27	RIMS2	T	1	1
GSDMD	79792	broad.mit.edu	36	8	144715976	144715976	+	Missense_Mutation	SNP	T	G	G			TCGA-06-0644-01	TCGA-06-0644-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144715976T>G	uc003yyf.1	+	c.1358T>G	c.(1357-1359)GTG>GGG	p.V453G	GSDMD_uc010mfe.1_Missense_Mutation_p.V405G|GSDMD_uc003yyg.1_Missense_Mutation_p.V405G|GSDMD_uc003yyh.1_Missense_Mutation_p.V336G	NM_024736	NP_079012	P57764	GSDMD_HUMAN	gasdermin D	405				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).							0														0.363636	6.994629	7.175065	4	7	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	144715976	144715976	7099	8	T	G	G	59	59	GSDMD	G	4	4
SLC46A2	57864	broad.mit.edu	36	9	114692310	114692310	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:114692310G>A	uc004bgk.1	-	c.473C>T	c.(472-474)GCG>GTG	p.A158V		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	158	Helical; Name=4; (Potential).				response to antibiotic	integral to membrane|plasma membrane	symporter activity|tetracycline:hydrogen antiporter activity			central_nervous_system(1)	1														0.40625	34.768503	35.014076	13	19	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	114692310	114692310	15142	9	G	A	A	38	38	SLC46A2	A	1	1
OR1N2	138882	broad.mit.edu	36	9	124355979	124355979	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124355979G>A	uc004bmo.1	+	c.710G>A	c.(709-711)CGC>CAC	p.R237H		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.296736	250.25506	262.71518	100	237	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124355979	124355979	11376	9	G	A	A	38	38	OR1N2	A	1	1
COL5A1	1289	broad.mit.edu	36	9	136761977	136761977	+	Silent	SNP	C	T	T			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:136761977C>T	uc004cfe.1	+	c.999C>T	c.(997-999)GTC>GTT	p.V333V		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	333	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)|skin(1)	8		Myeloproliferative disorder(178;0.0341)												0.313793	234.564937	243.48966	91	199	CC		KEEP	---	---	---	---	capture		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	Silent	SNP	136761977	136761977	3834	9	C	T	T	31	31	COL5A1	T	1	1
C9orf167	54863	broad.mit.edu	36	9	139294032	139294032	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0644-01	TCGA-06-0644-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139294032C>G	uc004cmn.1	+	c.1070C>G	c.(1069-1071)GCC>GGC	p.A357G	C9orf167_uc010nce.1_Missense_Mutation_p.A357G	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	hypothetical protein LOC54863	357					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity			pancreas(1)	1	all_cancers(76;0.0926)													0.5	7.73405	7.73405	4	4	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000728)	Missense_Mutation	SNP	139294032	139294032	2582	9	C	G	G	26	26	C9orf167	G	3	3
WNK2	65268	broad.mit.edu	36	9	95119987	95119987	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:95119987G>A	uc004ati.1	+	c.6751G>A	c.(6751-6753)GGA>AGA	p.G2251R	WNK2_uc004atj.1_Intron|WNK2_uc004atk.2_3'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2251					intracellular protein kinase cascade|protein phosphorylation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|large_intestine(1)|central_nervous_system(1)	7										1420				0.272727	23.661809	25.197373	9	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95119987	95119987	17952	9	G	A	A	39	39	WNK2	A	1	1
CXorf57	55086	broad.mit.edu	36	X	105742167	105742167	+	Silent	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:105742167G>A	uc004emi.2	+	c.201G>A	c.(199-201)GTG>GTA	p.V67V	CXorf57_uc004emj.2_Silent_p.V67V|CXorf57_uc004emh.2_Silent_p.V67V	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	67										ovary(1)|lung(1)|breast(1)	3														0.649635	257.443164	260.141014	89	48	GG		KEEP	---	---	---	---	capture			Silent	SNP	105742167	105742167	4277	23	G	A	A	46	46	CXorf57	A	2	2
TLR8	51311	broad.mit.edu	36	X	12849832	12849832	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:12849832G>A	uc004cvd.1	+	c.2806G>A	c.(2806-2808)GAG>AAG	p.E936K	TLR8_uc004cve.1_Missense_Mutation_p.E918K	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8	918	Cytoplasmic (Potential).|TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane|integral to membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|large_intestine(1)	5														0.564516	225.259466	225.708068	70	54	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12849832	12849832	16487	23	G	A	A	33	33	TLR8	A	2	2
MXRA5	25878	broad.mit.edu	36	X	3239308	3239308	+	Silent	SNP	G	A	A			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:3239308G>A	uc004crg.2	-	c.6936C>T	c.(6934-6936)AAC>AAT	p.N2312N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican	2312	Ig-like C2-type 7.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.718121	340.977046	347.3439	107	42	GG		KEEP	---	---	---	---	capture			Silent	SNP	3239308	3239308	10397	23	G	A	A	40	40	MXRA5	A	1	1
MAGED1	9500	broad.mit.edu	36	X	51655051	51655051	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:51655051G>C	uc004dpn.1	+	c.376G>C	c.(376-378)GCT>CCT	p.A126P	MAGED1_uc004dpm.1_Missense_Mutation_p.A70P|MAGED1_uc004dpo.1_Missense_Mutation_p.A70P	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform a	70					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)										Multiple Myeloma(10;0.10)			0.25	6.889845	7.801878	4	12	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51655051	51655051	9564	23	G	C	C	34	34	MAGED1	C	3	3
OTUD6A	139562	broad.mit.edu	36	X	69199442	69199442	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0644-01	TCGA-06-0644-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:69199442G>C	uc004dxu.1	+	c.343G>C	c.(343-345)GCT>CCT	p.A115P		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	115											0														0.5	20.45018	20.45018	6	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69199442	69199442	11729	23	G	C	C	42	42	OTUD6A	C	3	3
PTEN	5728	broad.mit.edu	36	10	89701968	89701969	+	Frame_Shift_Del	DEL	TA	-	-			TCGA-06-0644-01	TCGA-06-0644-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:89701968_89701969delTA	uc001kfb.1	+	c.606_607delTA	c.(604-609)ACTATTfs	p.T202fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	202_203	C2 tensin-type.				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.G165fs*9(3)|p.Y27_N212>Y(2)|p.T202I(1)|p.G165_K342del(1)|p.I203fs*39(1)|p.G165_*404del(1)|p.I203fs*18(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)	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)				31		264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.43			106	142				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	89701968	89701969	13192	10	TA	-	-	53	53	PTEN	-	5	5
CDC42EP1	11135	broad.mit.edu	36	22	36294355	36294375	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	-	-			TCGA-06-0644-01	TCGA-06-0644-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:36294355_36294375delCAGCGCCTGCTGCAAACCCCT	uc003asz.2	+	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)CCAGCGCCTGCTGCAAACCCCTCA>CCA	p.APAANPS254del		NM_152243	NP_689449	Q00587	BORG5_HUMAN	CDC42 effector protein 1	254_260	6.|8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding				0	Melanoma(58;0.0574)													0.41			19	27				---	---	---	---	capture_indel			In_Frame_Del	DEL	36294355	36294375	3203	22	CAGCGCCTGCTGCAAACCCCT	-	-	21	21	CDC42EP1	-	5	5
PCDH11Y	83259	broad.mit.edu	36	Y	5027730	5027730	+	Frame_Shift_Del	DEL	T	-	-			TCGA-06-0644-01	TCGA-06-0644-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:5027730_5027730delT	uc004fqo.1	+	c.2111_2111delT	c.(2110-2112)GTTfs	p.V704fs	PCDH11Y_uc010nwg.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fql.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqm.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqn.1_Frame_Shift_Del_p.V704fs|PCDH11Y_uc004fqp.1_Frame_Shift_Del_p.V475fs	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	704	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.62			94	57				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	5027730	5027730	11929	24	T	-	-	60	60	PCDH11Y	-	5	5
