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
PTEN	5728	broad.mit.edu	36	10	89682780	89682780	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89682780C>T	uc001kfb.1	+	c.284C>T	c.(283-285)CCA>CTA	p.P95L		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	95	Phosphatase 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.P95L(3)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.Q87_P96del(1)|p.P95S(1)|p.N82_P95del(1)|p.F90_P95>L(1)|p.F56fs*2(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	p.P95Q(DND41-Tumor)	264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.65625	218.852474	220.921536	63	33	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)	Missense_Mutation	SNP	89682780	89682780	13192	10	C	T	T	21	21	PTEN	T	2	2
SLC17A6	57084	broad.mit.edu	36	11	22355807	22355807	+	Missense_Mutation	SNP	T	C	C			TCGA-41-2573-01	TCGA-41-2573-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:22355807T>C	uc001mqk.1	+	c.1694T>C	c.(1693-1695)GTA>GCA	p.V565A		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	565	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4														0.528302	105.006485	105.043682	28	25	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22355807	22355807	14917	11	T	C	C	57	57	SLC17A6	C	4	4
OR51D1	390038	broad.mit.edu	36	11	4618487	4618487	+	Silent	SNP	T	A	A			TCGA-41-2573-01	TCGA-41-2573-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4618487T>A	uc001lzh.1	+	c.891T>A	c.(889-891)CCT>CCA	p.P297P		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	297	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)												0.413534	168.805981	169.672607	55	78	TT		KEEP	---	---	---	---	capture		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	Silent	SNP	4618487	4618487	11503	11	T	A	A	55	55	OR51D1	A	4	4
OR51T1	401665	broad.mit.edu	36	11	4860610	4860610	+	Missense_Mutation	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:4860610G>A	uc001lzp.1	+	c.986G>A	c.(985-987)CGC>CAC	p.R329H		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)												0.275641	108.148146	115.226197	43	113	GG		KEEP	---	---	---	---	capture		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	Missense_Mutation	SNP	4860610	4860610	11516	11	G	A	A	38	38	OR51T1	A	1	1
OR4C15	81309	broad.mit.edu	36	11	55079146	55079146	+	Missense_Mutation	SNP	A	T	T			TCGA-41-2573-01	TCGA-41-2573-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55079146A>T	uc001nho.1	+	c.788A>T	c.(787-789)AAC>ATC	p.N263I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.313433	111.682908	115.844998	42	92	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55079146	55079146	11454	11	A	T	T	2	2	OR4C15	T	4	4
PHRF1	57661	broad.mit.edu	36	11	598268	598268	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:598268C>T	uc001lqe.1	+	c.2812C>T	c.(2812-2814)CCA>TCA	p.P938S	PHRF1_uc009ybz.1_Missense_Mutation_p.P728S|PHRF1_uc009yca.1_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	938							RNA polymerase binding|zinc ion binding				0														0.481481	40.372681	40.380796	13	14	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	598268	598268	12285	11	C	T	T	22	22	PHRF1	T	2	2
ZNF10	7556	broad.mit.edu	36	12	132242956	132242956	+	Missense_Mutation	SNP	T	C	C			TCGA-41-2573-01	TCGA-41-2573-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:132242956T>C	uc009zzb.1	+	c.1051T>C	c.(1051-1053)TGT>CGT	p.C351R	ZNF10_uc001ulq.1_Missense_Mutation_p.C351R|ZNF10_uc009zzc.1_Missense_Mutation_p.C217R	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	351	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)												0.238342	120.753544	132.822529	46	147	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	Missense_Mutation	SNP	132242956	132242956	18303	12	T	C	C	51	51	ZNF10	C	4	4
YARS2	51067	broad.mit.edu	36	12	32799852	32799852	+	Missense_Mutation	SNP	G	C	C			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:32799852G>C	uc001rli.1	-	c.224C>G	c.(223-225)ACC>AGC	p.T75S		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	75					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|tyrosine-tRNA ligase activity				0	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)							OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.456044	291.026419	291.329492	83	99	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32799852	32799852	18051	12	G	C	C	44	44	YARS2	C	3	3
CPNE8	144402	broad.mit.edu	36	12	37365687	37365687	+	Splice_Site_SNP	SNP	C	A	A			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:37365687C>A	uc001rls.1	-	c.1144_splice	c.e16-1	p.N382_splice	CPNE8_uc001rlr.1_Splice_Site_SNP_p.N41_splice	NM_153634	NP_705898			copine VIII											pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)												0.224719	93.597842	105.99869	40	138	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	37365687	37365687	3956	12	C	A	A	32	32	CPNE8	A	5	3
KRT75	9119	broad.mit.edu	36	12	51108402	51108402	+	Silent	SNP	C	G	G			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51108402C>G	uc001saj.2	-	c.1287G>C	c.(1285-1287)CGG>CGC	p.R429R		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	429	Coil 2.|Rod.					keratin filament	structural molecule activity				0														0.216216	13.053566	15.860474	8	29	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.192)	Silent	SNP	51108402	51108402	8803	12	C	G	G	26	26	KRT75	G	3	3
TMEM194A	23306	broad.mit.edu	36	12	55750944	55750944	+	Splice_Site_SNP	SNP	C	A	A			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55750944C>A	uc001smy.1	-	c.253_splice	c.e3-1	p.I85_splice	TMEM194A_uc001smx.1_Splice_Site_SNP_p.I85_splice	NM_015257	NP_056072			transmembrane protein 194A isoform b							integral to membrane					0														0.153846	17.341716	26.289265	12	66	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	55750944	55750944	16650	12	C	A	A	32	32	TMEM194A	A	5	3
VWF	7450	broad.mit.edu	36	12	6008793	6008793	+	Silent	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6008793G>A	uc001qnn.1	-	c.2943C>T	c.(2941-2943)TCC>TCT	p.S981S		NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	981	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7					Antihemophilic Factor(DB00025)									0.384	147.173684	148.647018	48	77	GG		KEEP	---	---	---	---	capture			Silent	SNP	6008793	6008793	17818	12	G	A	A	39	39	VWF	A	1	1
ALX1	8092	broad.mit.edu	36	12	84219232	84219232	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:84219232C>T	uc001tae.2	+	c.829C>T	c.(829-831)CTC>TTC	p.L277F		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	277					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2														0.206349	64.476833	74.550654	26	100	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.134)	Missense_Mutation	SNP	84219232	84219232	559	12	C	T	T	24	24	ALX1	T	2	2
A2M	2	broad.mit.edu	36	12	9116735	9116735	+	Splice_Site_SNP	SNP	C	A	A			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:9116735C>A	uc001qvk.1	-	c.3757_splice	c.e30-1	p.D1253_splice	A2M_uc001qvj.1_Splice_Site_SNP_p.D295_splice|A2M_uc009zgk.1_Splice_Site_SNP_p.D1103_splice	NM_000014	NP_000005			alpha-2-macroglobulin precursor						blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)	4					Bacitracin(DB00626)|Becaplermin(DB00102)									0.2	20.147768	23.915677	9	36	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	9116735	9116735	5	12	C	A	A	24	24	A2M	A	5	3
RYR3	6263	broad.mit.edu	36	15	31610160	31610160	+	Splice_Site_SNP	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:31610160G>A	uc001zhi.1	+	c.354_splice	c.e4+1	p.M118_splice	RYR3_uc010bar.1_Splice_Site_SNP_p.M118_splice	NM_001036	NP_001027			ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)												0.21875	16.006834	18.34001	7	25	GG		KEEP	---	---	---	---	capture		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	Splice_Site_SNP	SNP	31610160	31610160	14250	15	G	A	A	44	44	RYR3	A	5	2
MGRN1	23295	broad.mit.edu	36	16	4671742	4671742	+	Missense_Mutation	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:4671742G>A	uc002cxb.1	+	c.1439G>A	c.(1438-1440)CGC>CAC	p.R480H	MGRN1_uc002cwz.1_Missense_Mutation_p.R441H|MGRN1_uc010btw.1_Missense_Mutation_p.R420H|MGRN1_uc002cxa.1_Missense_Mutation_p.R441H|MGRN1_uc010btx.1_Missense_Mutation_p.R420H	NM_015246	NP_056061	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 1	441					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1														0.333333	41.654135	42.9107	17	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4671742	4671742	9949	16	G	A	A	38	38	MGRN1	A	1	1
ATP6V0D1	9114	broad.mit.edu	36	16	66030050	66030050	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66030050C>T	uc002ete.1	-	c.938G>A	c.(937-939)GGT>GAT	p.G313D		NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	313					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)												0.307087	106.974424	111.190033	39	88	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	Missense_Mutation	SNP	66030050	66030050	1192	16	C	T	T	18	18	ATP6V0D1	T	2	2
FA2H	79152	broad.mit.edu	36	16	73307819	73307819	+	Silent	SNP	C	T	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:73307819C>T	uc002fde.1	-	c.966G>A	c.(964-966)TCG>TCA	p.S322S	FA2H_uc002fdd.1_Silent_p.S95S	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	322					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity				0														0.119403	9.204702	18.686685	8	59	CC		KEEP	---	---	---	---	capture			Silent	SNP	73307819	73307819	5549	16	C	T	T	27	27	FA2H	T	1	1
MYH1	4619	broad.mit.edu	36	17	10353527	10353527	+	Silent	SNP	C	T	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10353527C>T	uc002gmo.1	-	c.1587G>A	c.(1585-1587)AAG>AAA	p.K529K		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	529	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.661654	311.941427	315.014001	88	45	CC		KEEP	---	---	---	---	capture			Silent	SNP	10353527	10353527	10424	17	C	T	T	24	24	MYH1	T	2	2
USP6	9098	broad.mit.edu	36	17	4983594	4983594	+	Missense_Mutation	SNP	T	A	A			TCGA-41-2573-01	TCGA-41-2573-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4983594T>A	uc002gau.1	+	c.1399T>A	c.(1399-1401)TGG>AGG	p.W467R	USP6_uc002gav.1_Missense_Mutation_p.W467R|USP6_uc010ckz.1_Missense_Mutation_p.W150R	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	467					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1										464				0.682353	185.468625	187.97927	58	27	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4983594	4983594	17650	17	T	A	A	63	63	USP6	A	4	4
PPM1D	8493	broad.mit.edu	36	17	56080153	56080153	+	Silent	SNP	A	T	T			TCGA-41-2573-01	TCGA-41-2573-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:56080153A>T	uc002iyt.1	+	c.945A>T	c.(943-945)GGA>GGT	p.G315G	PPM1D_uc010ddm.1_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	315	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)													0.509434	165.848354	165.856515	54	52	AA		KEEP	---	---	---	---	capture	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		Silent	SNP	56080153	56080153	12772	17	A	T	T	10	10	PPM1D	T	4	4
PRAMEF1	65121	broad.mit.edu	36	1	12777123	12777123	+	Missense_Mutation	SNP	C	T	T	rs1063777	unknown	TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12777123C>T	uc001auj.1	+	c.760C>T	c.(760-762)CGG>TGG	p.R254W		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	254											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)												0.268421	127.874191	137.051718	51	139	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	12777123	12777123	12861	1	C	T	T	19	19	PRAMEF1	T	1	1
PLA2G4A	5321	broad.mit.edu	36	1	185129882	185129882	+	Missense_Mutation	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:185129882G>A	uc001gsc.1	+	c.294G>A	c.(292-294)ATG>ATA	p.M98I		NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	98	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(1)	1					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)									0.482143	166.739373	166.770691	54	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	185129882	185129882	12427	1	G	A	A	47	47	PLA2G4A	A	2	2
SLC44A5	204962	broad.mit.edu	36	1	75481219	75481219	+	Missense_Mutation	SNP	T	A	A			TCGA-41-2573-01	TCGA-41-2573-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:75481219T>A	uc001dgu.1	-	c.411A>T	c.(409-411)AAA>AAT	p.K137N	SLC44A5_uc001dgr.1_Missense_Mutation_p.K95N|SLC44A5_uc001dgs.1_Missense_Mutation_p.K95N|SLC44A5_uc001dgt.1_Missense_Mutation_p.K137N	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	137	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)	2														0.233333	117.963016	131.635849	49	161	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75481219	75481219	15136	1	T	A	A	56	56	SLC44A5	A	4	4
GDF5	8200	broad.mit.edu	36	20	33485587	33485587	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33485587C>T	uc010gfc.1	-	c.1040G>A	c.(1039-1041)CGC>CAC	p.R347H	GDF5_uc002xck.1_Missense_Mutation_p.R347H	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	347					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)													0.148148	25.431868	38.281736	16	92	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.00663)		Missense_Mutation	SNP	33485587	33485587	6584	20	C	T	T	27	27	GDF5	T	1	1
ZC3H7B	23264	broad.mit.edu	36	22	40081727	40081727	+	Missense_Mutation	SNP	T	G	G			TCGA-41-2573-01	TCGA-41-2573-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40081727T>G	uc003azw.1	+	c.2189T>G	c.(2188-2190)GTC>GGC	p.V730G	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	746					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1														0.181818	7.385879	9.480005	4	18	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40081727	40081727	18161	22	T	G	G	58	58	ZC3H7B	G	4	4
XDH	7498	broad.mit.edu	36	2	31442389	31442389	+	Missense_Mutation	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:31442389G>A	uc002rnv.1	-	c.2413C>T	c.(2413-2415)CGG>TGG	p.R805W		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	805					oxidation-reduction process|purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	Colon(66;682 1445 30109 40147)								0.415493	181.045263	181.917893	59	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31442389	31442389	18007	2	G	A	A	39	39	XDH	A	1	1
DQX1	165545	broad.mit.edu	36	2	74600651	74600651	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:74600651C>T	uc010ffk.1	-	c.1160G>A	c.(1159-1161)CGT>CAT	p.R387H	DQX1_uc002smc.1_Missense_Mutation_p.R66H	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	505						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2														0.190789	62.02044	75.578605	29	123	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74600651	74600651	4935	2	C	T	T	19	19	DQX1	T	1	1
LEKR1	389170	broad.mit.edu	36	3	158246125	158246125	+	Silent	SNP	C	T	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:158246125C>T	uc003fba.1	+	c.1059C>T	c.(1057-1059)GGC>GGT	p.G353G		NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	Error:Variant_position_missing_in_D3DNK7_after_alignment											0														0.715385	287.609356	293.018834	93	37	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		Silent	SNP	158246125	158246125	9041	3	C	T	T	27	27	LEKR1	T	1	1
IMPDH2	3615	broad.mit.edu	36	3	49039280	49039280	+	Silent	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49039280G>A	uc003cvt.1	-	c.663C>T	c.(661-663)ATC>ATT	p.I221I		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	221	CBS 2.				GMP biosynthetic process|oxidation-reduction process|purine base metabolic process	cytosol	IMP dehydrogenase activity|metal ion binding|protein binding			lung(1)	1					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)									0.746888	583.687921	597.013812	180	61	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Silent	SNP	49039280	49039280	8028	3	G	A	A	45	45	IMPDH2	A	2	2
BSN	8927	broad.mit.edu	36	3	49675916	49675916	+	Missense_Mutation	SNP	G	C	C			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49675916G>C	uc003cxe.2	+	c.11321G>C	c.(11320-11322)CGC>CCC	p.R3774P		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3774					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	zinc ion binding			ovary(5)|central_nervous_system(1)|pancreas(1)	7														0.24	11.649343	13.187182	6	19	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	Missense_Mutation	SNP	49675916	49675916	1561	3	G	C	C	38	38	BSN	C	3	3
UGT2A3	79799	broad.mit.edu	36	4	69830293	69830293	+	Missense_Mutation	SNP	C	A	A			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:69830293C>A	uc003hef.2	-	c.1411G>T	c.(1411-1413)GCC>TCC	p.A471S	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	471	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)	1														0.455224	182.555473	182.789965	61	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69830293	69830293	17513	4	C	A	A	28	28	UGT2A3	A	3	3
FTMT	94033	broad.mit.edu	36	5	121215768	121215768	+	Missense_Mutation	SNP	A	G	G			TCGA-41-2573-01	TCGA-41-2573-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:121215768A>G	uc003kss.1	+	c.211A>G	c.(211-213)AAC>GAC	p.N71D		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	mitochondrial ferritin	71	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|oxidation-reduction process|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)												0.318182	44.437979	45.728966	14	30	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	Missense_Mutation	SNP	121215768	121215768	6336	5	A	G	G	9	9	FTMT	G	4	4
KCNMB1	3779	broad.mit.edu	36	5	169738335	169738335	+	Missense_Mutation	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:169738335G>A	uc003maq.1	-	c.527C>T	c.(526-528)GCC>GTC	p.A176V	KCNIP1_uc003map.1_Intron	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated	176	Helical; Name=2; (Potential).				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			ovary(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)												0.173554	39.357968	51.488377	21	100	GG		KEEP	---	---	---	---	capture	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Missense_Mutation	SNP	169738335	169738335	8379	5	G	A	A	42	42	KCNMB1	A	2	2
MAP3K1	4214	broad.mit.edu	36	5	56215152	56215152	+	Silent	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:56215152G>A	uc003jqw.2	+	c.3708G>A	c.(3706-3708)CCG>CCA	p.P1236P		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	1236					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)								201				0.4	126.333729	127.250432	42	63	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	Silent	SNP	56215152	56215152	9626	5	G	A	A	40	40	MAP3K1	A	1	1
TMEM200A	114801	broad.mit.edu	36	6	130803921	130803921	+	Nonsense_Mutation	SNP	C	T	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:130803921C>T	uc003qca.1	+	c.661C>T	c.(661-663)CGA>TGA	p.R221*	TMEM200A_uc010kfh.1_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfi.1_Nonsense_Mutation_p.R221*|TMEM200A_uc003qcb.1_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfj.1_Nonsense_Mutation_p.R221*	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	221	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1										66				0.298507	54.480005	56.907779	20	47	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	Nonsense_Mutation	SNP	130803921	130803921	16658	6	C	T	T	31	31	TMEM200A	T	5	1
MAS1L	116511	broad.mit.edu	36	6	29563026	29563026	+	Silent	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:29563026G>A	uc003nmm.1	-	c.633C>T	c.(631-633)TTC>TTT	p.F211F		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	211	Extracellular (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(5)	5						NSCLC(153;755 1987 3859 11251 32945)								0.421687	106.920415	107.362097	35	48	GG		KEEP	---	---	---	---	capture			Silent	SNP	29563026	29563026	9705	6	G	A	A	41	41	MAS1L	A	2	2
DSP	1832	broad.mit.edu	36	6	7526799	7526799	+	Missense_Mutation	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:7526799G>A	uc003mxp.1	+	c.5377G>A	c.(5377-5379)GAG>AAG	p.E1793K	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1793	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)	8	Ovarian(93;0.0584)	all_hematologic(90;0.236)												0.265957	67.83128	72.483959	25	69	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	Missense_Mutation	SNP	7526799	7526799	4965	6	G	A	A	33	33	DSP	A	2	2
MDN1	23195	broad.mit.edu	36	6	90417232	90417232	+	Missense_Mutation	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:90417232G>A	uc003pnn.1	-	c.15971C>T	c.(15970-15972)TCA>TTA	p.S5324L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5324					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)												0.506667	111.528114	111.53077	38	37	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0193)	Missense_Mutation	SNP	90417232	90417232	9804	6	G	A	A	45	45	MDN1	A	2	2
PRSS1	5644	broad.mit.edu	36	7	142139251	142139251	+	Missense_Mutation	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142139251G>A	uc003wak.2	+	c.253G>A	c.(253-255)GAG>AAG	p.E85K	PRSS2_uc003wal.2_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.E25K	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	85	Peptidase S1.	Calcium.			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)												0.369014	357.818261	363.214669	131	224	GG		KEEP	---	---	---	---	capture	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Missense_Mutation	SNP	142139251	142139251	13064	7	G	A	A	45	45	PRSS1	A	2	2
SRCRB4D	136853	broad.mit.edu	36	7	75871608	75871608	+	Missense_Mutation	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:75871608G>A	uc003ufb.1	-	c.85C>T	c.(85-87)CCT>TCT	p.P29S	ZP3_uc003ufc.2_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	29						extracellular region|membrane	scavenger receptor activity			pancreas(1)	1														0.413043	54.314569	54.618764	19	27	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75871608	75871608	15651	7	G	A	A	43	43	SRCRB4D	A	2	2
FAM83H	286077	broad.mit.edu	36	8	144880335	144880335	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144880335C>T	uc003yzk.1	-	c.3284G>A	c.(3283-3285)CGC>CAC	p.R1095H	FAM83H_uc010mfk.1_Non-coding_Transcript	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	hypothetical protein LOC286077	1095					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.375	32.189523	32.629369	12	20	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		Missense_Mutation	SNP	144880335	144880335	5866	8	C	T	T	27	27	FAM83H	T	1	1
NFKBIL2	4796	broad.mit.edu	36	8	145632008	145632008	+	Silent	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145632008G>A	uc003zcu.2	-	c.2139C>T	c.(2137-2139)CCC>CCT	p.P713P		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	872					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)													0.30625	135.252737	140.589064	49	111	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		Silent	SNP	145632008	145632008	10782	8	G	A	A	43	43	NFKBIL2	A	2	2
POLB	5423	broad.mit.edu	36	8	42339298	42339298	+	Silent	SNP	A	G	G			TCGA-41-2573-01	TCGA-41-2573-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:42339298A>G	uc003xoz.1	+	c.633A>G	c.(631-633)TTA>TTG	p.L211L	POLB_uc003xpa.1_Intron	NM_002690	NP_002681	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	211					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			ovary(1)	1	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)			Cytarabine(DB00987)									0.392	176.858759	178.131922	49	76	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Silent	SNP	42339298	42339298	12617	8	A	G	G	14	14	POLB	G	4	4
COL5A1	1289	broad.mit.edu	36	9	136731661	136731661	+	Silent	SNP	C	T	T			TCGA-41-2573-01	TCGA-41-2573-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:136731661C>T	uc004cfe.1	+	c.363C>T	c.(361-363)AAC>AAT	p.N121N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	121	TSP N-terminal.|Laminin G-like.				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)												0.440945	162.184396	162.569148	56	71	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	136731661	136731661	3834	9	C	T	T	19	19	COL5A1	T	1	1
SOHLH1	402381	broad.mit.edu	36	9	137726062	137726062	+	Missense_Mutation	SNP	G	A	A			TCGA-41-2573-01	TCGA-41-2573-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137726062G>A	uc010nbe.1	-	c.938C>T	c.(937-939)TCG>TTG	p.S313L	SOHLH1_uc004cgl.1_Missense_Mutation_p.S313L	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic	313					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription regulator activity			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)												0.54902	176.129545	176.348033	56	46	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	Missense_Mutation	SNP	137726062	137726062	15423	9	G	A	A	37	37	SOHLH1	A	1	1
