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
FAM107B	83641	broad.mit.edu	36	10	14604014	14604014	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:14604014G>C	uc001ina.1	-	c.664C>G	c.(664-666)CCT>GCT	p.P222A	FAM107B_uc001imy.1_Missense_Mutation_p.P47A|FAM107B_uc001imz.1_Missense_Mutation_p.P47A|FAM107B_uc001imx.1_Missense_Mutation_p.P47A|FAM107B_uc009xjg.1_Missense_Mutation_p.P47A	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	47										breast(4)	4														0.573171	175.439252	175.82241	47	35	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14604014	14604014	5587	10	G	C	C	41	41	FAM107B	C	3	3
PTEN	5728	broad.mit.edu	36	10	89710656	89710656	+	Missense_Mutation	SNP	A	G	G			TCGA-27-1834-01	TCGA-27-1834-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89710656A>G	uc001kfb.1	+	c.827A>G	c.(826-828)AAT>AGT	p.N276S		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	276	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.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.W274_F341del(1)|p.G165_K342del(1)|p.N276fs*15(1)		endometrium(831)|central_nervous_system(654)|skin(119)|haematopoietic_and_lymphoid_tissue(101)|prostate(97)|large_intestine(90)|breast(67)|lung(63)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(21)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(12)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2308		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						31		264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.5	91.551166	91.551166	26	26	AA		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	89710656	89710656	13192	10	A	G	G	4	4	PTEN	G	4	4
FOXRED1	55572	broad.mit.edu	36	11	125651501	125651501	+	Missense_Mutation	SNP	A	G	G			TCGA-27-1834-01	TCGA-27-1834-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:125651501A>G	uc001qdi.1	+	c.974A>G	c.(973-975)TAT>TGT	p.Y325C	FOXRED1_uc001qdj.1_Missense_Mutation_p.Y114C|FOXRED1_uc001qdk.1_Missense_Mutation_p.Y114C	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	325					oxidation-reduction process	integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)												0.128205	7.126613	17.818166	10	68	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	Missense_Mutation	SNP	125651501	125651501	6279	11	A	G	G	16	16	FOXRED1	G	4	4
NELL1	4745	broad.mit.edu	36	11	21091812	21091812	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:21091812C>T	uc009yid.1	+	c.1486C>T	c.(1486-1488)CGT>TGT	p.R496C	NELL1_uc001mqe.1_Missense_Mutation_p.R468C|NELL1_uc001mqf.1_Missense_Mutation_p.R468C	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	468	EGF-like 2; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3														0.315789	221.169105	228.619782	78	169	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	21091812	21091812	10732	11	C	T	T	31	31	NELL1	T	1	1
OR5M8	219484	broad.mit.edu	36	11	56014731	56014731	+	Missense_Mutation	SNP	T	A	A			TCGA-27-1834-01	TCGA-27-1834-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56014731T>A	uc001nix.1	-	c.692A>T	c.(691-693)GAG>GTG	p.E231V		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)													0.315068	60.802953	63.021749	23	50	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56014731	56014731	11586	11	T	A	A	54	54	OR5M8	A	4	4
MS4A4A	51338	broad.mit.edu	36	11	59832185	59832185	+	Silent	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:59832185C>T	uc001noz.1	+	c.678C>T	c.(676-678)CAC>CAT	p.H226H	MS4A4A_uc001npa.1_Silent_p.H207H|MS4A4A_uc001npb.1_Silent_p.H207H|MS4A4A_uc001npc.1_Silent_p.H154H	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member	226	Cytoplasmic (Potential).					integral to membrane	receptor activity				0														0.382022	182.74653	184.922532	68	110	CC		KEEP	---	---	---	---	capture			Silent	SNP	59832185	59832185	10255	11	C	T	T	17	17	MS4A4A	T	2	2
CCDC87	55231	broad.mit.edu	36	11	66116412	66116412	+	Silent	SNP	G	A	A	rs17853294	unknown	TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66116412G>A	uc001oiq.2	-	c.651C>T	c.(649-651)TTC>TTT	p.F217F	CCS_uc001oir.1_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	217										ovary(1)	1														0.375	133.120732	134.892727	48	80	GG		KEEP	---	---	---	---	capture			Silent	SNP	66116412	66116412	2987	11	G	A	A	37	37	CCDC87	A	1	1
MVK	4598	broad.mit.edu	36	12	108508268	108508268	+	Missense_Mutation	SNP	A	G	G			TCGA-27-1834-01	TCGA-27-1834-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108508268A>G	uc001toy.2	+	c.586A>G	c.(586-588)ATT>GTT	p.I196V	MVK_uc009zvk.1_Missense_Mutation_p.I196V|MVK_uc001toz.2_Missense_Mutation_p.I2V|MVK_uc001tpb.2_Missense_Mutation_p.I144V|MVK_uc001tpc.2_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	mevalonate kinase	196					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0														0.347826	70.673179	72.086087	24	45	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108508268	108508268	10389	12	A	G	G	12	12	MVK	G	4	4
FZD10	11211	broad.mit.edu	36	12	129213814	129213814	+	Missense_Mutation	SNP	A	T	T			TCGA-27-1834-01	TCGA-27-1834-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:129213814A>T	uc001uii.1	+	c.374A>T	c.(373-375)AAC>ATC	p.N125I		NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10	125	FZ.|Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.319853	232.027293	239.872291	87	185	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	Missense_Mutation	SNP	129213814	129213814	6380	12	A	T	T	2	2	FZD10	T	4	4
FAM113B	91523	broad.mit.edu	36	12	45916380	45916380	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:45916380G>C	uc001rpn.1	+	c.1267G>C	c.(1267-1269)GCC>CCC	p.A423P	FAM113B_uc001rpq.1_Missense_Mutation_p.A423P|FAM113B_uc009zko.1_Missense_Mutation_p.A423P	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	423	Pro-rich.						hydrolase activity			ovary(2)	2	Renal(347;0.138)|Lung SC(27;0.192)													0.363636	9.732348	10.155875	8	14	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45916380	45916380	5599	12	G	C	C	42	42	FAM113B	C	3	3
OLFM4	10562	broad.mit.edu	36	13	52522556	52522556	+	Silent	SNP	T	A	A			TCGA-27-1834-01	TCGA-27-1834-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr13:52522556T>A	uc001vhl.1	+	c.1182T>A	c.(1180-1182)GTT>GTA	p.V394V	OLFM4_uc001vhk.1_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	394	Olfactomedin-like.				cell adhesion	extracellular space					0		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)								717				0.636364	490.409658	494.375096	154	88	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(99;3.13e-08)	Silent	SNP	52522556	52522556	11260	13	T	A	A	61	61	OLFM4	A	4	4
ZNF839	55778	broad.mit.edu	36	14	101862304	101862304	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:101862304C>T	uc010awk.1	+	c.518C>T	c.(517-519)CCT>CTT	p.P173L	ZNF839_uc001ylo.2_Missense_Mutation_p.P57L|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Missense_Mutation_p.P57L|ZNF839_uc001ylr.2_Missense_Mutation_p.P57L	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	zinc finger protein 839	57						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.580645	59.853798	60.029444	18	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101862304	101862304	18788	14	C	T	T	24	24	ZNF839	T	2	2
OR10G2	26534	broad.mit.edu	36	14	21172545	21172545	+	Silent	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:21172545C>T	uc001wbj.1	-	c.294G>A	c.(292-294)CCG>CCA	p.P98P		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)												0.557692	88.877253	89.027639	29	23	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0142)	Silent	SNP	21172545	21172545	11305	14	C	T	T	19	19	OR10G2	T	1	1
FOXA1	3169	broad.mit.edu	36	14	37130420	37130420	+	Silent	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:37130420G>A	uc001wuf.1	-	c.1320C>T	c.(1318-1320)GGC>GGT	p.G440G		NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	440					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)													0.541176	131.945191	132.069693	46	39	GG		KEEP	---	---	---	---	capture	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	Silent	SNP	37130420	37130420	6231	14	G	A	A	46	46	FOXA1	A	2	2
ANKS4B	257629	broad.mit.edu	36	16	21169190	21169190	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:21169190C>T	uc010bwp.1	+	c.802C>T	c.(802-804)CGT>TGT	p.R268C	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	268										ovary(2)	2														0.514286	114.802202	114.814672	36	34	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0565)	Missense_Mutation	SNP	21169190	21169190	699	16	C	T	T	31	31	ANKS4B	T	1	1
SEZ6	124925	broad.mit.edu	36	17	24332800	24332800	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:24332800G>A	uc002hdp.2	-	c.439C>T	c.(439-441)CCT>TCT	p.P147S	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.P147S|SEZ6_uc002hdq.1_Missense_Mutation_p.P22S|SEZ6_uc010crz.1_Missense_Mutation_p.P147S	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	147	Pro-rich.|Extracellular (Potential).					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)													0.434783	60.497016	60.666044	20	26	GG		KEEP	---	---	---	---	capture	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		Missense_Mutation	SNP	24332800	24332800	14631	17	G	A	A	43	43	SEZ6	A	2	2
TBC1D16	125058	broad.mit.edu	36	17	75530520	75530520	+	Silent	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:75530520C>T	uc002jxj.1	-	c.1989G>A	c.(1987-1989)ACG>ACA	p.T663T	TBC1D16_uc002jxh.1_Silent_p.T301T|TBC1D16_uc002jxi.1_Silent_p.T288T	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	663						intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)					Ovarian(14;397 562 4850 31922 49378)								0.413793	37.195798	37.383723	12	17	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		Silent	SNP	75530520	75530520	16127	17	C	T	T	23	23	TBC1D16	T	1	1
AGL	178	broad.mit.edu	36	1	100154773	100154773	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:100154773G>A	uc001dsi.1	+	c.4379G>A	c.(4378-4380)CGT>CAT	p.R1460H	AGL_uc001dsj.1_Missense_Mutation_p.R1460H|AGL_uc001dsk.1_Missense_Mutation_p.R1460H|AGL_uc001dsl.1_Missense_Mutation_p.R1460H|AGL_uc001dsm.1_Missense_Mutation_p.R1444H|AGL_uc001dsn.1_Missense_Mutation_p.R1443H	NM_000642	NP_000635	P35573	GDE_HUMAN	amylo-1, 6-glucosidase,	1460	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)	2		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)												0.352941	66.429075	67.703552	24	44	GG		KEEP	---	---	---	---	capture		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	Missense_Mutation	SNP	100154773	100154773	387	1	G	A	A	40	40	AGL	A	1	1
DENND2C	163259	broad.mit.edu	36	1	114945016	114945016	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114945016G>A	uc001efd.1	-	c.1904C>T	c.(1903-1905)GCT>GTT	p.A635V	DENND2C_uc001eez.2_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.A578V	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	635	DENN.										0	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)												0.294872	127.681984	133.559132	46	110	GG		KEEP	---	---	---	---	capture		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Missense_Mutation	SNP	114945016	114945016	4609	1	G	A	A	34	34	DENND2C	A	2	2
DVL1	1855	broad.mit.edu	36	1	1265338	1265338	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1265338C>T	uc001aer.2	-	c.852G>A	c.(850-852)ATG>ATA	p.M284I	DVL1_uc001aeq.1_Missense_Mutation_p.M1I|DVL1_uc009vka.1_5'UTR|DVL1_uc001aeu.1_5'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	284	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)								137				0.340909	38.914641	39.897363	15	29	CC		KEEP	---	---	---	---	capture		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	Missense_Mutation	SNP	1265338	1265338	5021	1	C	T	T	29	29	DVL1	T	2	2
FLG	2312	broad.mit.edu	36	1	150543448	150543448	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150543448G>A	uc001ezu.1	-	c.10538C>T	c.(10537-10539)GCG>GTG	p.A3513V		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3513	Ser-rich.|Filaggrin 21.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.364008	488.826361	496.777127	178	311	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150543448	150543448	6160	1	G	A	A	38	38	FLG	A	1	1
CRNN	49860	broad.mit.edu	36	1	150649473	150649473	+	Missense_Mutation	SNP	C	A	A			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150649473C>A	uc001ezx.1	-	c.709G>T	c.(709-711)GGT>TGT	p.G237C		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	237	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)													0.345494	428.803662	438.640243	161	305	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150649473	150649473	4031	1	C	A	A	24	24	CRNN	A	3	3
MIB2	142678	broad.mit.edu	36	1	1550641	1550641	+	Silent	SNP	C	G	G			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:1550641C>G	uc001agg.1	+	c.1008C>G	c.(1006-1008)GGC>GGG	p.G336G	MIB2_uc001agh.1_Silent_p.G322G|MIB2_uc001agi.1_Silent_p.G336G|MIB2_uc001agj.1_Silent_p.G177G|MIB2_uc001agk.1_Silent_p.G271G|MIB2_uc001agl.1_Silent_p.G292G|MIB2_uc001agm.1_Silent_p.G213G|MIB2_uc009vkh.1_Silent_p.G177G|MIB2_uc001agn.1_Silent_p.G4G	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	336					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)												0.375	6.317642	6.429136	3	5	CC		KEEP	---	---	---	---	capture		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Silent	SNP	1550641	1550641	9957	1	C	G	G	26	26	MIB2	G	3	3
ARHGEF19	128272	broad.mit.edu	36	1	16405299	16405299	+	Missense_Mutation	SNP	A	C	C			TCGA-27-1834-01	TCGA-27-1834-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:16405299A>C	uc001ayc.1	-	c.1261T>G	c.(1261-1263)TTT>GTT	p.F421V	ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_5'UTR	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	421	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)												0.307692	6.411619	6.894115	4	9	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	16405299	16405299	916	1	A	C	C	2	2	ARHGEF19	C	4	4
MAP7D1	55700	broad.mit.edu	36	1	36416690	36416690	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:36416690G>A	uc001bzz.1	+	c.1792G>A	c.(1792-1794)GAA>AAA	p.E598K	MAP7D1_uc001caa.1_Missense_Mutation_p.E566K|MAP7D1_uc001cab.1_Missense_Mutation_p.E561K|MAP7D1_uc001cac.1_Missense_Mutation_p.E298K|MAP7D1_uc001cad.1_Missense_Mutation_p.E135K	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	598	Potential.					cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)												0.238095	7.243678	8.586755	5	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36416690	36416690	9650	1	G	A	A	33	33	MAP7D1	A	2	2
TGM6	343641	broad.mit.edu	36	20	2332044	2332044	+	Missense_Mutation	SNP	A	G	G			TCGA-27-1834-01	TCGA-27-1834-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:2332044A>G	uc002wfy.1	+	c.991A>G	c.(991-993)AAT>GAT	p.N331D	TGM6_uc010gal.1_Missense_Mutation_p.N331D	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	331					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)	3					L-Glutamine(DB00130)									0.371429	21.544289	22.132391	13	22	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	2332044	2332044	16362	20	A	G	G	9	9	TGM6	G	4	4
TP53INP2	58476	broad.mit.edu	36	20	32761741	32761741	+	Missense_Mutation	SNP	A	C	C			TCGA-27-1834-01	TCGA-27-1834-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:32761741A>C	uc002xau.1	+	c.632A>C	c.(631-633)TAC>TCC	p.Y211S		NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	211						nucleus					0														0.230769	6.417961	7.282136	3	10	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32761741	32761741	16931	20	A	C	C	14	14	TP53INP2	C	4	4
NEURL2	140825	broad.mit.edu	36	20	43952867	43952867	+	Silent	SNP	G	C	C			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:43952867G>C	uc002xqg.1	-	c.171C>G	c.(169-171)CGC>CGG	p.R57R	CTSA_uc002xqh.1_5'Flank|CTSA_uc002xqj.2_5'Flank|CTSA_uc002xqi.1_5'Flank|CTSA_uc002xqk.2_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	57	NHR.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)												0.210526	7.083219	8.564555	4	15	GG		KEEP	---	---	---	---	capture			Silent	SNP	43952867	43952867	10746	20	G	C	C	38	38	NEURL2	C	3	3
CSTF1	1477	broad.mit.edu	36	20	54412136	54412136	+	Silent	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:54412136G>A	uc002xxl.1	+	c.1242G>A	c.(1240-1242)ACG>ACA	p.T414T	CSTF1_uc002xxm.1_Silent_p.T414T|CSTF1_uc002xxn.1_Silent_p.T414T|CSTF1_uc002xxo.1_Silent_p.T357T	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	414	WD 6.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1														0.384615	252.031248	254.607656	85	136	GG		KEEP	---	---	---	---	capture	Colorectal(105;0.202)		Silent	SNP	54412136	54412136	4124	20	G	A	A	40	40	CSTF1	A	1	1
COL6A2	1292	broad.mit.edu	36	21	46370369	46370369	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46370369C>T	uc002zia.1	+	c.2212C>T	c.(2212-2214)CGG>TGG	p.R738W	COL6A2_uc002zhy.1_Missense_Mutation_p.R738W|COL6A2_uc002zhz.1_Missense_Mutation_p.R738W|COL6A2_uc002zib.1_Missense_Mutation_p.R144W|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	738	VWFA 2.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)													0.42132	236.858244	237.928673	83	114	CC		KEEP	---	---	---	---	capture		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	Missense_Mutation	SNP	46370369	46370369	3838	21	C	T	T	31	31	COL6A2	T	1	1
GPD2	2820	broad.mit.edu	36	2	157147653	157147653	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:157147653G>A	uc002tzf.2	+	c.2161G>A	c.(2161-2163)GAC>AAC	p.D721N	GPD2_uc002tzd.2_Missense_Mutation_p.D721N|GPD2_uc002tze.1_Non-coding_Transcript	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2	721					cellular lipid metabolic process|oxidation-reduction process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1														0.172043	31.940551	41.394321	16	77	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	157147653	157147653	6880	2	G	A	A	41	41	GPD2	A	2	2
XIRP2	129446	broad.mit.edu	36	2	167806633	167806633	+	Silent	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:167806633C>T	uc002udx.1	+	c.1143C>T	c.(1141-1143)GAC>GAT	p.D381D	XIRP2_uc010fpn.1_Silent_p.D414D|XIRP2_uc010fpo.1_Silent_p.D381D|XIRP2_uc010fpp.1_Silent_p.D381D|XIRP2_uc002udy.2_Silent_p.D206D|XIRP2_uc010fpq.1_Silent_p.D159D|XIRP2_uc010fpr.1_Silent_p.D159D	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	206					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.28626	187.411476	198.155259	75	187	CC		KEEP	---	---	---	---	capture			Silent	SNP	167806633	167806633	18011	2	C	T	T	17	17	XIRP2	T	2	2
TTN	7273	broad.mit.edu	36	2	179375266	179375266	+	Missense_Mutation	SNP	A	T	T			TCGA-27-1834-01	TCGA-27-1834-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179375266A>T	uc002umr.1	-	c.139T>A	c.(139-141)TCC>ACC	p.S47T	TTN_uc002ums.1_Missense_Mutation_p.S47T|TTN_uc010frc.1_Missense_Mutation_p.S47T|TTN_uc010frd.1_Missense_Mutation_p.S47T|TTN_uc002unb.1_Missense_Mutation_p.S47T|TTN_uc002und.2_Missense_Mutation_p.S47T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	47										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153										8722				0.34	90.52083	92.783062	34	66	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179375266	179375266	17290	2	A	T	T	9	9	TTN	T	4	4
ALS2CR8	79800	broad.mit.edu	36	2	203555211	203555211	+	Missense_Mutation	SNP	T	C	C			TCGA-27-1834-01	TCGA-27-1834-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:203555211T>C	uc002uzo.2	+	c.1861T>C	c.(1861-1863)TGC>CGC	p.C621R	ALS2CR8_uc002uzp.2_Missense_Mutation_p.C621R	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	621										large_intestine(1)|ovary(1)	2														0.130137	25.118099	44.568753	19	127	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	203555211	203555211	558	2	T	C	C	51	51	ALS2CR8	C	4	4
EPHA4	2043	broad.mit.edu	36	2	222137178	222137178	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:222137178C>T	uc002vmq.1	-	c.340G>A	c.(340-342)GTC>ATC	p.V114I	EPHA4_uc002vmr.2_Missense_Mutation_p.V114I	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4	114	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			lung(3)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	9		Renal(207;0.0183)								395				0.376506	361.096293	365.539084	125	207	CC		KEEP	---	---	---	---	capture		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	Missense_Mutation	SNP	222137178	222137178	5362	2	C	T	T	19	19	EPHA4	T	1	1
LHCGR	3973	broad.mit.edu	36	2	48811888	48811888	+	Missense_Mutation	SNP	A	T	T			TCGA-27-1834-01	TCGA-27-1834-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:48811888A>T	uc002rwu.2	-	c.215T>A	c.(214-216)CTT>CAT	p.L72H	GTF2A1L_uc002rwt.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	72	Extracellular (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|breast(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)			Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)									0.185897	60.177226	74.606935	29	127	AA		KEEP	---	---	---	---	capture	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Missense_Mutation	SNP	48811888	48811888	9088	2	A	T	T	3	3	LHCGR	T	4	4
TSGA10	80705	broad.mit.edu	36	2	99003203	99003203	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:99003203C>T	uc002szg.2	-	c.1789G>A	c.(1789-1791)GAA>AAA	p.E597K	TSGA10_uc002szh.2_Missense_Mutation_p.E597K|TSGA10_uc002szi.2_Missense_Mutation_p.E597K|TSGA10_uc010fin.1_Missense_Mutation_p.E597K	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	597	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2														0.092199	7.862709	31.473205	13	128	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99003203	99003203	17168	2	C	T	T	32	32	TSGA10	T	2	2
PHLDB2	90102	broad.mit.edu	36	3	113086756	113086756	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:113086756G>A	uc010hqa.1	+	c.1142G>A	c.(1141-1143)AGG>AAG	p.R381K	PHLDB2_uc003dyc.1_Missense_Mutation_p.R408K|PHLDB2_uc003dyd.1_Missense_Mutation_p.R381K|PHLDB2_uc003dyf.2_Missense_Mutation_p.R381K|PHLDB2_uc003dyg.1_Missense_Mutation_p.R381K|PHLDB2_uc003dyh.1_Missense_Mutation_p.R381K|PHLDB2_uc003dye.2_Missense_Mutation_p.R381K	NM_145753	NP_665696	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	381						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)	4														0.413502	312.90295	314.452756	98	139	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	113086756	113086756	12276	3	G	A	A	35	35	PHLDB2	A	2	2
RPL32	6161	broad.mit.edu	36	3	12856707	12856707	+	Silent	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:12856707G>A	uc003bxl.1	-	c.30C>T	c.(28-30)CCC>CCT	p.P10P	RPL32_uc003bxm.1_Silent_p.P10P|RPL32_uc003bxn.1_Silent_p.P10P	NM_001007074	NP_001007075	P62910	RL32_HUMAN	ribosomal protein L32	10					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			ovary(1)	1														0.11501	66.227593	141.090031	59	454	GG		KEEP	---	---	---	---	capture			Silent	SNP	12856707	12856707	14061	3	G	A	A	47	47	RPL32	A	2	2
MBNL1	4154	broad.mit.edu	36	3	153500746	153500746	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:153500746G>A	uc003ezm.1	+	c.74G>A	c.(73-75)GGG>GAG	p.G25E	MBNL1_uc003ezg.1_Non-coding_Transcript|MBNL1_uc003ezh.1_Missense_Mutation_p.G25E|MBNL1_uc003ezi.1_Missense_Mutation_p.G25E|MBNL1_uc003ezj.1_Intron|MBNL1_uc003ezl.1_Missense_Mutation_p.G25E|MBNL1_uc003ezp.1_Missense_Mutation_p.G25E|MBNL1_uc003ezn.1_Missense_Mutation_p.G25E|MBNL1_uc003ezo.1_Missense_Mutation_p.G25E|MBNL1_uc003ezk.1_Non-coding_Transcript	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	25	C3H1-type 1.				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1														0.294416	162.668705	170.122348	58	139	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Missense_Mutation	SNP	153500746	153500746	9741	3	G	A	A	43	43	MBNL1	A	2	2
CELSR3	1951	broad.mit.edu	36	3	48672397	48672397	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48672397C>T	uc003cuf.1	-	c.2885G>A	c.(2884-2886)CGT>CAT	p.R962H	CELSR3_uc003cul.1_Missense_Mutation_p.R892H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	892	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7														0.511364	136.472947	136.482791	45	43	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	Missense_Mutation	SNP	48672397	48672397	3356	3	C	T	T	19	19	CELSR3	T	1	1
ITIH3	3699	broad.mit.edu	36	3	52808442	52808442	+	Nonsense_Mutation	SNP	C	A	A			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:52808442C>A	uc003dfv.2	+	c.804C>A	c.(802-804)TAC>TAA	p.Y268*		NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	268					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3														0.153846	6.773869	12.77569	8	44	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	Nonsense_Mutation	SNP	52808442	52808442	8209	3	C	A	A	20	20	ITIH3	A	5	3
ENPEP	2028	broad.mit.edu	36	4	111693943	111693943	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:111693943C>T	uc003iab.2	+	c.2525C>T	c.(2524-2526)ACG>ATG	p.T842M		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	842	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(203;0.217)			L-Glutamic Acid(DB00142)									0.257261	155.933298	168.808321	62	179	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	Missense_Mutation	SNP	111693943	111693943	5321	4	C	T	T	19	19	ENPEP	T	1	1
NR3C2	4306	broad.mit.edu	36	4	149576811	149576811	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:149576811C>T	uc003ilj.2	-	c.652G>A	c.(652-654)GCC>ACC	p.A218T	NR3C2_uc003ilk.2_Missense_Mutation_p.A218T|NR3C2_uc010iph.1_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	218	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)				Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	Melanoma(27;428 957 40335 51025 51111)								0.12381	15.751503	30.256022	13	92	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0614)	Missense_Mutation	SNP	149576811	149576811	11036	4	C	T	T	28	28	NR3C2	T	2	2
FRAS1	80144	broad.mit.edu	36	4	79619688	79619688	+	Silent	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:79619688G>A	uc003hkx.2	+	c.8232G>A	c.(8230-8232)GGG>GGA	p.G2744G	FRAS1_uc003hlb.1_Silent_p.G966G	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2740	Extracellular (Potential).|Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.333333	92.553139	94.983041	33	66	GG		KEEP	---	---	---	---	capture			Silent	SNP	79619688	79619688	6288	4	G	A	A	42	42	FRAS1	A	2	2
ACSL6	23305	broad.mit.edu	36	5	131354546	131354546	+	Missense_Mutation	SNP	G	C	C			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:131354546G>C	uc003kvx.1	-	c.284C>G	c.(283-285)GCA>GGA	p.A95G	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc010jdn.1_Missense_Mutation_p.A70G|ACSL6_uc003kvy.1_Missense_Mutation_p.A95G|ACSL6_uc010jdo.1_Missense_Mutation_p.A70G|ACSL6_uc003kvz.1_Missense_Mutation_p.A35G|ACSL6_uc003kwa.1_Missense_Mutation_p.A81G|ACSL6_uc003kwb.1_Missense_Mutation_p.A35G|ACSL6_uc003kwc.1_Missense_Mutation_p.A35G|ACSL6_uc003kwd.1_Missense_Mutation_p.A70G	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	70	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			ovary(1)	1		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)								264				0.26087	8.20172	9.426906	6	17	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Missense_Mutation	SNP	131354546	131354546	182	5	G	C	C	46	46	ACSL6	C	3	3
SOX30	11063	broad.mit.edu	36	5	157011071	157011071	+	Silent	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:157011071G>A	uc003lxb.1	-	c.594C>T	c.(592-594)GGC>GGT	p.G198G	SOX30_uc003lxc.1_Silent_p.G198G	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	198					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)				Esophageal Squamous(31;525 799 19355 21125 41744)								0.469613	223.224361	223.368907	85	96	GG		KEEP	---	---	---	---	capture	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Silent	SNP	157011071	157011071	15452	5	G	A	A	38	38	SOX30	A	1	1
DDR1	780	broad.mit.edu	36	6	30969150	30969150	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30969150C>T	uc003nrv.1	+	c.1318C>T	c.(1318-1320)CGG>TGG	p.R440W	DDR1_uc010jse.1_Missense_Mutation_p.R440W|DDR1_uc003nrq.1_Missense_Mutation_p.R440W|DDR1_uc003nrs.1_Missense_Mutation_p.R440W|DDR1_uc003nrt.1_Missense_Mutation_p.R440W|DDR1_uc003nrr.1_Missense_Mutation_p.R440W|DDR1_uc003nru.1_Missense_Mutation_p.R440W|DDR1_uc003nrw.1_Missense_Mutation_p.R239W|DDR1_uc003nry.1_Non-coding_Transcript|DDR1_uc003nrx.1_Non-coding_Transcript	NM_013994	NP_054700	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	440	Helical; (Potential).				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)					411				0.290323	24.265609	25.484972	9	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30969150	30969150	4507	6	C	T	T	27	27	DDR1	T	1	1
CLCN1	1180	broad.mit.edu	36	7	142753447	142753447	+	Silent	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142753447G>A	uc003wcr.1	+	c.2265G>A	c.(2263-2265)CCG>CCA	p.P755P		NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	755	Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)|breast(1)|central_nervous_system(1)	3	Melanoma(164;0.205)													0.121212	23.117691	41.667913	16	116	GG		KEEP	---	---	---	---	capture			Silent	SNP	142753447	142753447	3598	7	G	A	A	39	39	CLCN1	A	1	1
OR6B1	135946	broad.mit.edu	36	7	143332638	143332638	+	Missense_Mutation	SNP	A	G	G			TCGA-27-1834-01	TCGA-27-1834-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:143332638A>G	uc003wdt.1	+	c.616A>G	c.(616-618)ATC>GTC	p.I206V		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)													0.285714	243.84798	257.704801	96	240	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143332638	143332638	11597	7	A	G	G	8	8	OR6B1	G	4	4
IGF2BP3	10643	broad.mit.edu	36	7	23476120	23476120	+	Silent	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:23476120C>T	uc003swg.1	-	c.135G>A	c.(133-135)CCG>CCA	p.P45P	IGF2BP3_uc003swh.1_Non-coding_Transcript	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	45	RRM 1.				anatomical structure morphogenesis|negative regulation of translation|regulation of cytokine biosynthetic process|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2														0.248963	157.475979	171.294124	60	181	CC		KEEP	---	---	---	---	capture			Silent	SNP	23476120	23476120	7876	7	C	T	T	23	23	IGF2BP3	T	1	1
SRCRB4D	136853	broad.mit.edu	36	7	75864856	75864856	+	Silent	SNP	G	C	C			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:75864856G>C	uc003ufb.1	-	c.783C>G	c.(781-783)GGC>GGG	p.G261G	ZP3_uc003ufc.2_5'UTR	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	261	SRCR 2.					extracellular region|membrane	scavenger receptor activity			pancreas(1)	1														0.238095	7.604427	8.898602	5	16	GG		KEEP	---	---	---	---	capture			Silent	SNP	75864856	75864856	15651	7	G	C	C	38	38	SRCRB4D	C	3	3
GNAT3	346562	broad.mit.edu	36	7	79955883	79955883	+	Silent	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:79955883G>A	uc010leb.1	-	c.207C>T	c.(205-207)TTC>TTT	p.F69F	CD36_uc003uhc.1_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	69					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1														0.195122	16.874505	20.43009	8	33	GG		KEEP	---	---	---	---	capture			Silent	SNP	79955883	79955883	6782	7	G	A	A	45	45	GNAT3	A	2	2
CYP11B2	1585	broad.mit.edu	36	8	143991859	143991859	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:143991859G>A	uc003yxk.1	-	c.965C>T	c.(964-966)CCC>CTC	p.P322L		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, subfamily XIB polypeptide 2	322					aldosterone biosynthetic process|oxidation-reduction process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|renal water homeostasis|sodium ion homeostasis|xenobiotic metabolic process	mitochondrial inner membrane	corticosterone 18-monooxygenase activity|electron carrier activity|heme binding|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)									0.243243	68.634569	75.261814	27	84	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143991859	143991859	4311	8	G	A	A	43	43	CYP11B2	A	2	2
HR	55806	broad.mit.edu	36	8	22039128	22039128	+	Missense_Mutation	SNP	G	T	T			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22039128G>T	uc003xas.1	-	c.1468C>A	c.(1468-1470)CTC>ATC	p.L490I	HR_uc003xat.1_Missense_Mutation_p.L490I	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	490							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)												0.145833	10.192528	15.98349	7	41	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	Missense_Mutation	SNP	22039128	22039128	7639	8	G	T	T	33	33	HR	T	3	3
OR1J4	26219	broad.mit.edu	36	9	124321706	124321706	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:124321706G>A	uc004bmm.1	+	c.466G>A	c.(466-468)GCC>ACC	p.A156T		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.712389	477.514062	486.639478	161	65	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	124321706	124321706	11367	9	G	A	A	46	46	OR1J4	A	2	2
GTF3C4	9329	broad.mit.edu	36	9	134535966	134535966	+	Missense_Mutation	SNP	C	T	T			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:134535966C>T	uc010mzv.1	+	c.160C>T	c.(160-162)CGG>TGG	p.R54W	DDX31_uc004cbq.1_5'Flank|DDX31_uc010mzu.1_5'Flank|DDX31_uc004cbr.1_5'Flank|DDX31_uc004cbs.1_5'Flank|GTF3C4_uc010mzw.1_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide	54					5S class rRNA transcription from RNA polymerase III type 1 promoter|transcription initiation from RNA polymerase III promoter|tRNA transcription from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2						Pancreas(142;417 1875 11086 31973 47667)								0.8	22.299443	23.134037	8	2	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	Missense_Mutation	SNP	134535966	134535966	7155	9	C	T	T	27	27	GTF3C4	T	1	1
C9orf116	138162	broad.mit.edu	36	9	137527179	137527179	+	Missense_Mutation	SNP	G	A	A			TCGA-27-1834-01	TCGA-27-1834-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:137527179G>A	uc004cft.1	-	c.326C>T	c.(325-327)ACT>ATT	p.T109I	C9orf116_uc004cfs.1_3'UTR|C9orf116_uc004cfu.1_Non-coding_Transcript	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN	hypothetical protein LOC138162 isoform 1	109											0														0.74026	377.311305	385.357496	114	40	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)	Missense_Mutation	SNP	137527179	137527179	2563	9	G	A	A	36	36	C9orf116	A	2	2
IFNB1	3456	broad.mit.edu	36	9	21067465	21067465	+	Missense_Mutation	SNP	C	A	A			TCGA-27-1834-01	TCGA-27-1834-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:21067465C>A	uc003zok.1	-	c.404G>T	c.(403-405)GGA>GTA	p.G135V		NM_002176	NP_002167	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	135					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of innate immune response|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			ovary(1)|breast(1)|kidney(1)	3					Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)					45				0.72679	853.061448	870.546606	274	103	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Missense_Mutation	SNP	21067465	21067465	7847	9	C	A	A	30	30	IFNB1	A	3	3
MICALCL	84953	broad.mit.edu	36	11	12272960	12272965	+	In_Frame_Del	DEL	CTCCTA	-	-			TCGA-27-1834-01	TCGA-27-1834-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:12272960_12272965delCTCCTA	uc001mkg.1	+	c.1406_1411delCTCCTA	c.(1405-1413)CCTCCTACA>CCA	p.PT470del		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470_471					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding				0				Epithelial(150;0.00177)										0.31			4	9				---	---	---	---	capture_indel			In_Frame_Del	DEL	12272960	12272965	9962	11	CTCCTA	-	-	24	24	MICALCL	-	5	5
