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
C10orf2	56652	broad.mit.edu	36	10	102739548	102739548	+	Silent	SNP	A	G	G			TCGA-06-0209-01	TCGA-06-0209-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102739548A>G	uc001ksf.1	+	c.1401A>G	c.(1399-1401)CAA>CAG	p.Q467Q	MRPL43_uc001kry.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.1_5'Flank|C10orf2_uc001ksg.1_Silent_p.Q467Q|C10orf2_uc001ksh.1_Non-coding_Transcript|C10orf2_uc001ksi.1_Silent_p.Q13Q	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle	467	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)												0.166667	62.096233	79.792502	28	140	AA		KEEP	---	---	---	---	capture		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	Silent	SNP	102739548	102739548	1634	10	A	G	G	2	2	C10orf2	G	4	4
TRPC6	7225	broad.mit.edu	36	11	100852311	100852311	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:100852311C>T	uc001pgk.2	-	c.1675G>A	c.(1675-1677)GAC>AAC	p.D559N	TRPC6_uc009ywy.1_Missense_Mutation_p.D443N|TRPC6_uc009ywz.1_Missense_Mutation_p.D504N	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	559	Extracellular (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)				Colon(166;1315 1927 11094 12848 34731)								0.25	86.884044	94.610788	34	102	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;0.0442)	Missense_Mutation	SNP	100852311	100852311	17134	11	C	T	T	29	29	TRPC6	T	2	2
OR4P4	81300	broad.mit.edu	36	11	55162647	55162647	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0209-01	TCGA-06-0209-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:55162647A>G	uc001nhr.1	+	c.238A>G	c.(238-240)ATG>GTG	p.M80V		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	80	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.238095	191.051197	208.14503	65	208	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55162647	55162647	11490	11	A	G	G	4	4	OR4P4	G	4	4
OR56A4	120793	broad.mit.edu	36	11	5980913	5980913	+	Silent	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:5980913C>T	uc001mce.1	-	c.42G>A	c.(40-42)CAG>CAA	p.Q14Q		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	Error:Variant_position_missing_in_Q8NGH8_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)												0.206522	98.544151	113.234339	38	146	CC		KEEP	---	---	---	---	capture		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Silent	SNP	5980913	5980913	11545	11	C	T	T	24	24	OR56A4	T	2	2
LRP6	4040	broad.mit.edu	36	12	12203180	12203180	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:12203180C>T	uc001rah.2	-	c.2641G>A	c.(2641-2643)GTC>ATC	p.V881I	BCL2L14_uc001raf.1_Intron	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	881	Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 15.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5		Prostate(47;0.0865)								618				0.139785	18.50954	30.1697	13	80	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12203180	12203180	9335	12	C	T	T	19	19	LRP6	T	1	1
LRP1	4035	broad.mit.edu	36	12	55886774	55886774	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:55886774G>T	uc001snd.1	+	c.11842G>T	c.(11842-11844)GGT>TGT	p.G3948C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3948	Extracellular (Potential).|LDL-receptor class B 31.				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456				0.156863	29.737922	41.194603	16	86	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.0103)	Missense_Mutation	SNP	55886774	55886774	9324	12	G	T	T	43	43	LRP1	T	3	3
GRIP1	23426	broad.mit.edu	36	12	65197993	65197993	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:65197993C>T	uc001stk.1	-	c.533G>A	c.(532-534)CGT>CAT	p.R178H	GRIP1_uc001stl.1_Missense_Mutation_p.R122H|GRIP1_uc001stm.1_Missense_Mutation_p.R178H	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	178	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2														0.197531	35.998047	42.86608	16	65	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	Missense_Mutation	SNP	65197993	65197993	7066	12	C	T	T	19	19	GRIP1	T	1	1
METT11D1	64745	broad.mit.edu	36	14	20528039	20528039	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20528039G>C	uc001vyo.1	+	c.38G>C	c.(37-39)AGA>ACA	p.R13T	METT11D1_uc001vym.2_Missense_Mutation_p.R13T|METT11D1_uc001vyn.1_Missense_Mutation_p.R13T|METT11D1_uc001vyp.1_5'UTR|METT11D1_uc001vyq.1_5'UTR	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	13					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)													0.217742	70.46223	79.569011	27	97	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)	Missense_Mutation	SNP	20528039	20528039	9880	14	G	C	C	33	33	METT11D1	C	3	3
METT11D1	64745	broad.mit.edu	36	14	20528293	20528293	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:20528293G>C	uc001vyo.1	+	c.140G>C	c.(139-141)AGG>ACG	p.R47T	METT11D1_uc001vym.2_Missense_Mutation_p.R47T|METT11D1_uc001vyn.1_Missense_Mutation_p.R47T|METT11D1_uc001vyp.1_5'UTR|METT11D1_uc001vyq.1_5'UTR	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	47					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)											OREG0022561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.186364	82.327205	102.628418	41	179	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)	Missense_Mutation	SNP	20528293	20528293	9880	14	G	C	C	35	35	METT11D1	C	3	3
GNG2	54331	broad.mit.edu	36	14	51503103	51503103	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:51503103C>T	uc001wzi.1	+	c.164C>T	c.(163-165)CCG>CTG	p.P55L	GNG2_uc001wzh.1_Non-coding_Transcript|GNG2_uc010aoc.1_Non-coding_Transcript|GNG2_uc001wzj.1_Non-coding_Transcript|GNG2_uc001wzk.1_Missense_Mutation_p.P55L	NM_053064	NP_444292	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein),	55					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity				0	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)									0.241636	169.645909	186.020667	65	204	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	51503103	51503103	6796	14	C	T	T	23	23	GNG2	T	1	1
LTBP2	4053	broad.mit.edu	36	14	74039952	74039952	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:74039952G>A	uc001xqa.1	-	c.4693C>T	c.(4693-4695)CGC>TGC	p.R1565C		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1565	EGF-like 18; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)	1														0.35	38.538331	39.332204	14	26	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	Missense_Mutation	SNP	74039952	74039952	9450	14	G	A	A	38	38	LTBP2	A	1	1
PSMC1	5700	broad.mit.edu	36	14	89806363	89806363	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:89806363C>T	uc001xyf.1	+	c.1102C>T	c.(1102-1104)CAC>TAC	p.H368Y	PSMC1_uc001xyg.1_Missense_Mutation_p.H295Y|PSMC1_uc001xyh.1_Missense_Mutation_p.H295Y	NM_002802	NP_002793	P62191	PRS4_HUMAN	proteasome 26S ATPase subunit 1	368					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0		all_cancers(154;0.142)												0.231481	56.111492	63.251976	25	83	CC		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.21)	Missense_Mutation	SNP	89806363	89806363	13138	14	C	T	T	29	29	PSMC1	T	2	2
SERPINA3	12	broad.mit.edu	36	14	94150664	94150664	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:94150664G>A	uc001ydo.2	+	c.208G>A	c.(208-210)GTG>ATG	p.V70M	SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.1_Non-coding_Transcript|SERPINA3_uc001ydq.1_Missense_Mutation_p.V45M|SERPINA3_uc001ydp.1_Missense_Mutation_p.V45M|SERPINA3_uc001yds.1_Missense_Mutation_p.V45M|SERPINA3_uc010avg.1_Missense_Mutation_p.V45M	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	45					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.V45M(1)		ovary(2)|central_nervous_system(2)|large_intestine(1)	5		all_cancers(154;0.0525)|all_epithelial(191;0.179)												0.237113	109.169348	121.410703	46	148	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	Missense_Mutation	SNP	94150664	94150664	14578	14	G	A	A	40	40	SERPINA3	A	1	1
BCL11B	64919	broad.mit.edu	36	14	98712228	98712228	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:98712228G>A	uc001yga.1	-	c.698C>T	c.(697-699)GCG>GTG	p.A233V	BCL11B_uc001ygb.1_Missense_Mutation_p.A162V	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	233	C2H2-type 1.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)	9		Melanoma(154;0.0866)|all_epithelial(191;0.241)								98				0.27027	26.434528	28.195451	10	27	GG		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(157;0.103)	Missense_Mutation	SNP	98712228	98712228	1385	14	G	A	A	38	38	BCL11B	A	1	1
POTEB	339010	broad.mit.edu	36	15	19335853	19335853	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:19335853C>T	uc001ytu.1	-	c.448G>A	c.(448-450)GGT>AGT	p.G150S	POTEB_uc010axv.1_Non-coding_Transcript	NM_207355	NP_997238	Q6S5H4	POTEB_HUMAN	protein expressed in prostate, ovary, testis,	150	ANK 1.										0														0.113734	60.144035	128.648975	53	413	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19335853	19335853	12691	15	C	T	T	22	22	POTEB	T	2	2
FMN1	342184	broad.mit.edu	36	15	31048635	31048635	+	Silent	SNP	T	A	A			TCGA-06-0209-01	TCGA-06-0209-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:31048635T>A	uc001zhf.2	-	c.1890A>T	c.(1888-1890)GCA>GCT	p.A630A		NM_001103184	NP_001096654	C9JFW6	C9JFW6_HUMAN	formin 1	473										ovary(1)	1		all_lung(180;1.14e-07)												0.285714	14.234698	15.429882	8	20	TT		KEEP	---	---	---	---	capture		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Silent	SNP	31048635	31048635	6191	15	T	A	A	59	59	FMN1	A	4	4
HDC	3067	broad.mit.edu	36	15	48322639	48322639	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:48322639C>T	uc001zxz.1	-	c.1235G>A	c.(1234-1236)CGT>CAT	p.R412H	HDC_uc001zxy.1_Missense_Mutation_p.R155H	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	412					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|central_nervous_system(1)	3		all_lung(180;0.0138)			L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GBM(95;1627 1936 6910 9570)								0.123711	13.931126	27.367922	12	85	CC		KEEP	---	---	---	---	capture		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	Missense_Mutation	SNP	48322639	48322639	7298	15	C	T	T	19	19	HDC	T	1	1
CP110	9738	broad.mit.edu	36	16	19455474	19455474	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:19455474C>T	uc002dgk.2	+	c.982C>T	c.(982-984)CGA>TGA	p.R328*	CP110_uc002dgl.2_Nonsense_Mutation_p.R328*	NM_014711	NP_055526	O43303	CP110_HUMAN	CP110 protein	328					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0														0.310345	125.424317	130.068552	45	100	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	19455474	19455474	3926	16	C	T	T	19	19	CP110	T	5	1
CACNG3	10368	broad.mit.edu	36	16	24265611	24265611	+	Silent	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:24265611C>T	uc002dmf.1	+	c.267C>T	c.(265-267)TAC>TAT	p.Y89Y		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	89					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0														0.191919	39.86316	48.649554	19	80	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0809)	Silent	SNP	24265611	24265611	2674	16	C	T	T	19	19	CACNG3	T	1	1
OGFOD1	55239	broad.mit.edu	36	16	55067598	55067598	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0209-01	TCGA-06-0209-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr16:55067598T>C	uc002ejb.1	+	c.1609T>C	c.(1609-1611)TCA>CCA	p.S537P	OGFOD1_uc002ejc.1_Missense_Mutation_p.S397P	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase	537					oxidation-reduction process		iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)									0.269663	73.362024	77.621053	24	65	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55067598	55067598	11246	16	T	C	C	62	62	OGFOD1	C	4	4
MYH2	4620	broad.mit.edu	36	17	10369074	10369074	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10369074G>A	uc010coi.1	-	c.4696C>T	c.(4696-4698)CGC>TGC	p.R1566C	MYH2_uc002gmp.2_Missense_Mutation_p.R1566C|MYH2_uc010coj.1_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1566	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.302885	169.072843	176.271963	63	145	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	10369074	10369074	10430	17	G	A	A	38	38	MYH2	A	1	1
KRTAP4-3	85290	broad.mit.edu	36	17	36577720	36577720	+	Silent	SNP	G	A	A	rs12600648	unknown	TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36577720G>A	uc010cxl.1	-	c.231C>T	c.(229-231)TCC>TCT	p.S77S		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	77	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].|9.					keratin filament					0		Breast(137;0.000496)												0.2	6.684967	8.36431	4	16	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(17;0.000449)		Silent	SNP	36577720	36577720	8874	17	G	A	A	47	47	KRTAP4-3	A	2	2
VEZF1	7716	broad.mit.edu	36	17	53415218	53415218	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0209-01	TCGA-06-0209-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:53415218T>C	uc002ivf.1	-	c.569A>G	c.(568-570)AAT>AGT	p.N190S	VEZF1_uc010dcn.1_Missense_Mutation_p.N34S	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	zinc finger protein 161	190	C2H2-type 2.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|specific RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)|breast(1)	2														0.214286	42.98881	48.262933	15	55	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53415218	53415218	17722	17	T	C	C	52	52	VEZF1	C	4	4
FBF1	85302	broad.mit.edu	36	17	71422481	71422481	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:71422481G>C	uc002jqc.2	-	c.2711C>G	c.(2710-2712)GCC>GGC	p.A904G	FBF1_uc002jqa.1_Intron|FBF1_uc002jqb.2_Intron|FBF1_uc010dgr.1_Missense_Mutation_p.A215G	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	904											0														0.272727	6.329955	6.836497	3	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71422481	71422481	5931	17	G	C	C	42	42	FBF1	C	3	3
DSG3	1830	broad.mit.edu	36	18	27292535	27292535	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27292535G>A	uc002kws.1	+	c.346G>A	c.(346-348)GAC>AAC	p.D116N		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	116	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.116279	15.316921	34.090281	15	114	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		Missense_Mutation	SNP	27292535	27292535	4962	18	G	A	A	37	37	DSG3	A	1	1
ALPK2	115701	broad.mit.edu	36	18	54354922	54354922	+	Silent	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:54354922C>T	uc002lhj.2	-	c.3477G>A	c.(3475-3477)ACG>ACA	p.T1159T	ALPK2_uc002lhk.1_Silent_p.T490T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1159					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11										343				0.203226	141.269694	166.607372	63	247	CC		KEEP	---	---	---	---	capture			Silent	SNP	54354922	54354922	548	18	C	T	T	31	31	ALPK2	T	1	1
MRPS12	6183	broad.mit.edu	36	19	44115013	44115013	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:44115013C>T	uc002okc.1	+	c.250C>T	c.(250-252)CGG>TGG	p.R84W	SARS2_uc002ojz.1_5'Flank|SARS2_uc002oka.1_5'Flank|SARS2_uc002okb.1_5'Flank|MRPS12_uc002okd.1_Missense_Mutation_p.R84W|MRPS12_uc002oke.1_Missense_Mutation_p.R84W	NM_033362	NP_203527	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12 precursor	84					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome				0	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)													0.18705	48.169618	60.925376	26	113	CC		KEEP	---	---	---	---	capture	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		Missense_Mutation	SNP	44115013	44115013	10216	19	C	T	T	27	27	MRPS12	T	1	1
PSG5	5673	broad.mit.edu	36	19	48380962	48380962	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48380962G>A	uc002ovv.1	-	c.242C>T	c.(241-243)TCA>TTA	p.S81L	PSG5_uc010eir.1_Missense_Mutation_p.S9L|PSG5_uc002ovu.1_Missense_Mutation_p.S81L|PSG5_uc002ovw.1_Missense_Mutation_p.S81L|PSG5_uc002ovx.1_Missense_Mutation_p.S81L	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	81	Ig-like V-type.				female pregnancy	extracellular region					0		Prostate(69;0.00899)												0.17452	189.817243	247.125533	100	473	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48380962	48380962	13111	19	G	A	A	45	45	PSG5	A	2	2
XRCC1	7515	broad.mit.edu	36	19	48747621	48747621	+	Missense_Mutation	SNP	C	T	T	rs2271980	by-hapmap	TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:48747621C>T	uc002owt.2	-	c.1141G>A	c.(1141-1143)GTG>ATG	p.V381M		NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	381	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4		Prostate(69;0.0153)												0.195918	101.355291	122.475662	48	197	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48747621	48747621	18035	19	C	T	T	19	19	XRCC1	T	1	1
MAP2K7	5609	broad.mit.edu	36	19	7881352	7881352	+	Silent	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7881352C>T	uc002miu.1	+	c.510C>T	c.(508-510)TCC>TCT	p.S170S	MAP2K7_uc002mit.1_Silent_p.S154S|MAP2K7_uc002miv.1_Silent_p.S154S|MAP2K7_uc010dvv.1_Silent_p.S29S	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	154	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)	9					Etoposide(DB00773)					108				0.194444	16.61466	19.741708	7	29	CC		KEEP	---	---	---	---	capture			Silent	SNP	7881352	7881352	9625	19	C	T	T	23	23	MAP2K7	T	1	1
MUC16	94025	broad.mit.edu	36	19	8908027	8908027	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8908027G>A	uc002mkp.1	-	c.34604C>T	c.(34603-34605)ACG>ATG	p.T11535M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11537	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.195804	60.82394	73.15397	28	115	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8908027	8908027	10367	19	G	A	A	40	40	MUC16	A	1	1
CSDE1	7812	broad.mit.edu	36	1	115071206	115071206	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0209-01	TCGA-06-0209-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:115071206T>C	uc001efi.1	-	c.1523A>G	c.(1522-1524)GAT>GGT	p.D508G	CSDE1_uc001efj.1_Non-coding_Transcript|CSDE1_uc001efl.1_Missense_Mutation_p.D431G|CSDE1_uc001efm.1_Missense_Mutation_p.D477G|CSDE1_uc009wgv.1_Missense_Mutation_p.D462G|CSDE1_uc001efn.1_Missense_Mutation_p.D431G|CSDE1_uc001efk.1_Missense_Mutation_p.D462G	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	462	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)												0.210145	78.60306	89.327024	29	109	TT		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	115071206	115071206	4070	1	T	C	C	50	50	CSDE1	C	4	4
TCHH	7062	broad.mit.edu	36	1	150350715	150350715	+	Silent	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150350715G>A	uc001ezp.2	-	c.1602C>T	c.(1600-1602)AGC>AGT	p.S534S	TCHH_uc009wne.1_Silent_p.S534S	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	534	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.239796	104.746003	116.787216	47	149	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Silent	SNP	150350715	150350715	16226	1	G	A	A	38	38	TCHH	A	1	1
KIF21B	23046	broad.mit.edu	36	1	199224285	199224285	+	Nonsense_Mutation	SNP	G	T	T			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:199224285G>T	uc001gvs.1	-	c.3309C>A	c.(3307-3309)TAC>TAA	p.Y1103*	KIF21B_uc001gvr.1_Nonsense_Mutation_p.Y1103*|KIF21B_uc009wzl.1_Nonsense_Mutation_p.Y1103*	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1103					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3														0.416667	9.847405	9.925232	5	7	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	199224285	199224285	8600	1	G	T	T	40	40	KIF21B	T	5	3
LGR6	59352	broad.mit.edu	36	1	200553950	200553950	+	Silent	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:200553950C>T	uc001gxu.1	+	c.1896C>T	c.(1894-1896)TAC>TAT	p.Y632Y	LGR6_uc001gxv.1_Silent_p.Y580Y|LGR6_uc009xab.1_Non-coding_Transcript|LGR6_uc001gxw.1_Silent_p.Y493Y	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	632	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|pancreas(1)	8														0.145455	11.872584	18.516695	8	47	CC		KEEP	---	---	---	---	capture			Silent	SNP	200553950	200553950	9084	1	C	T	T	19	19	LGR6	T	1	1
OR1C1	26188	broad.mit.edu	36	1	245988110	245988110	+	Silent	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245988110C>T	uc001idl.1	-	c.222G>A	c.(220-222)ACG>ACA	p.T74T		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)												0.264706	45.126307	48.524909	18	50	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		Silent	SNP	245988110	245988110	11358	1	C	T	T	19	19	OR1C1	T	1	1
KIAA0467	23334	broad.mit.edu	36	1	43679586	43679586	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:43679586C>T	uc001cjk.1	+	c.4762C>T	c.(4762-4764)CCT>TCT	p.P1588S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2487						peroxisome				breast(6)|ovary(4)|pancreas(1)	11	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.320652	157.357852	162.617061	59	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43679586	43679586	8485	1	C	T	T	30	30	KIAA0467	T	2	2
CYP4A11	1579	broad.mit.edu	36	1	47172757	47172757	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:47172757C>G	uc001cqp.2	-	c.852G>C	c.(850-852)AAG>AAC	p.K284N	CYP4A11_uc001cqq.2_Missense_Mutation_p.K284N	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	284					long-chain fatty acid metabolic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)	2					NADH(DB00157)									0.330435	255.324478	261.183944	76	154	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47172757	47172757	4348	1	C	G	G	32	32	CYP4A11	G	3	3
C1orf175	374977	broad.mit.edu	36	1	54908799	54908799	+	Silent	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54908799C>T	uc001cxp.1	+	c.1431C>T	c.(1429-1431)TCC>TCT	p.S477S	C1orf175_uc001cxq.1_Non-coding_Transcript|C1orf175_uc001cxr.1_Non-coding_Transcript|C1orf175_uc001cxs.1_Non-coding_Transcript|C1orf175_uc001cxt.1_Non-coding_Transcript|C1orf175_uc009vzq.1_Intron	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	477						integral to membrane	binding				0														0.428571	53.245828	53.431828	18	24	CC		KEEP	---	---	---	---	capture			Silent	SNP	54908799	54908799	2083	1	C	T	T	23	23	C1orf175	T	1	1
BPIL1	80341	broad.mit.edu	36	20	31069737	31069737	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:31069737G>A	uc002wyj.1	+	c.589G>A	c.(589-591)GTG>ATG	p.V197M		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	197						extracellular region	lipid binding			large_intestine(1)|ovary(1)	2														0.256944	95.34712	103.0335	37	107	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31069737	31069737	1519	20	G	A	A	40	40	BPIL1	A	1	1
RBM38	55544	broad.mit.edu	36	20	55401771	55401771	+	Missense_Mutation	SNP	C	G	G			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:55401771C>G	uc002xyj.1	+	c.392C>G	c.(391-393)CCC>CGC	p.P131R	RBM38_uc002xyk.1_Intron	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	RNA-binding region containing protein 1 isoform	131					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|cytosol|nucleus|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding				0	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)													0.153846	85.215384	120.965109	48	264	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		Missense_Mutation	SNP	55401771	55401771	13594	20	C	G	G	22	22	RBM38	G	3	3
KRTAP19-4	337971	broad.mit.edu	36	21	30791182	30791182	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:30791182C>T	uc002yoh.1	-	c.118G>A	c.(118-120)GGC>AGC	p.G40S		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	40						intermediate filament				ovary(2)	2														0.141667	51.078252	80.866726	34	206	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	30791182	30791182	8846	21	C	T	T	21	21	KRTAP19-4	T	2	2
GLI2	2736	broad.mit.edu	36	2	121463667	121463667	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:121463667G>A	uc010flp.1	+	c.3707G>A	c.(3706-3708)GGC>GAC	p.G1236D	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.2_Missense_Mutation_p.G908D|GLI2_uc002tmu.2_Missense_Mutation_p.G891D	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1236					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(7)|central_nervous_system(1)	8	Renal(3;0.0496)	Prostate(154;0.0623)								376				0.192982	18.715326	23.717891	11	46	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	121463667	121463667	6706	2	G	A	A	42	42	GLI2	A	2	2
POTEF	728378	broad.mit.edu	36	2	130594157	130594157	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:130594157G>C	uc010fmh.1	-	c.402C>G	c.(400-402)CAC>CAG	p.H134Q	POTEF_uc010fmi.1_Non-coding_Transcript|POTEF_uc010fmj.1_Non-coding_Transcript	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	134						cell cortex	ATP binding			ovary(2)|skin(1)	3														0.198758	86.318268	99.905523	32	129	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	130594157	130594157	12695	2	G	C	C	40	40	POTEF	C	3	3
KCNJ3	3760	broad.mit.edu	36	2	155419540	155419540	+	Silent	SNP	T	C	C			TCGA-06-0209-01	TCGA-06-0209-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:155419540T>C	uc002tyv.1	+	c.975T>C	c.(973-975)CAT>CAC	p.H325H		NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	325	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			pancreas(1)	1					Halothane(DB01159)									0.22619	108.964968	120.526784	38	130	TT		KEEP	---	---	---	---	capture			Silent	SNP	155419540	155419540	8357	2	T	C	C	50	50	KCNJ3	C	4	4
UPP2	151531	broad.mit.edu	36	2	158679997	158679997	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:158679997G>A	uc002tzo.1	+	c.319G>A	c.(319-321)GGG>AGG	p.G107R	UPP2_uc002tzp.1_Missense_Mutation_p.G107R	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	107					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0														0.266055	77.025881	82.416752	29	80	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	158679997	158679997	17574	2	G	A	A	39	39	UPP2	A	1	1
TTN	7273	broad.mit.edu	36	2	179139317	179139317	+	Silent	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179139317G>A	uc002umr.1	-	c.72084C>T	c.(72082-72084)TCC>TCT	p.S24028S	TTN_uc002ums.1_Silent_p.S17723S|TTN_uc010frc.1_Silent_p.S17656S|TTN_uc010frd.1_Silent_p.S17531S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24955										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				0.199346	146.706004	172.434133	61	245	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Silent	SNP	179139317	179139317	17290	2	G	A	A	39	39	TTN	A	1	1
OBSL1	23363	broad.mit.edu	36	2	220141162	220141162	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:220141162G>C	uc010fwk.1	-	c.1141C>G	c.(1141-1143)CTG>GTG	p.L381V	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.L381V|OBSL1_uc002vmj.2_5'UTR	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	381	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)										OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.25	6.601133	7.510986	4	12	GG		KEEP	---	---	---	---	capture		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	Missense_Mutation	SNP	220141162	220141162	11218	2	G	C	C	34	34	OBSL1	C	3	3
UGT1A1	54658	broad.mit.edu	36	2	234333798	234333798	+	Silent	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:234333798C>T	uc002vvb.1	+	c.126C>T	c.(124-126)AGC>AGT	p.S42S	UGT1A8_uc002vup.1_Intron|UGT1A10_uc002vuq.2_Intron|UGT1A10_uc002vur.1_Intron|UGT1A9_uc002vus.1_Intron|UGT1A7_uc002vut.1_Intron|UGT1A6_uc002vuu.1_Intron|UGT1A6_uc002vuv.2_Intron|UGT1A5_uc002vuw.1_Intron|UGT1A4_uc002vux.1_Intron|UGT1A3_uc002vuy.1_Intron|UGT1A10_uc002vva.1_Intron	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	42					bilirubin conjugation|digestion|drug metabolic process|estrogen metabolic process|flavone metabolic process|heme catabolic process|negative regulation of steroid metabolic process|retinoic acid metabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)	1		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)									0.152174	9.05287	14.338374	7	39	CC		KEEP	---	---	---	---	capture		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Silent	SNP	234333798	234333798	17502	2	C	T	T	25	25	UGT1A1	T	2	2
IFT57	55081	broad.mit.edu	36	3	109421069	109421069	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0209-01	TCGA-06-0209-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:109421069A>T	uc003dwx.2	-	c.253T>A	c.(253-255)TAC>AAC	p.Y85N		NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	estrogen-related receptor beta like 1	85					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			ovary(1)|skin(1)|pancreas(1)	3														0.284672	102.074111	107.773803	39	98	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		Missense_Mutation	SNP	109421069	109421069	7863	3	A	T	T	15	15	IFT57	T	4	4
COL6A6	131873	broad.mit.edu	36	3	131837245	131837245	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:131837245G>A	uc010htl.1	+	c.5041G>A	c.(5041-5043)GAC>AAC	p.D1681N	COL6A6_uc003eni.2_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6	1681	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.174603	22.846055	29.093108	11	52	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	131837245	131837245	3841	3	G	A	A	41	41	COL6A6	A	2	2
COL7A1	1294	broad.mit.edu	36	3	48604812	48604812	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:48604812G>A	uc003ctz.2	-	c.1069C>T	c.(1069-1071)CGT>TGT	p.R357C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	357	Nonhelical region (NC1).|Fibronectin type-III 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9														0.163934	18.61975	25.157033	10	51	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	Missense_Mutation	SNP	48604812	48604812	3842	3	G	A	A	39	39	COL7A1	A	1	1
NR3C2	4306	broad.mit.edu	36	4	149293097	149293097	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0209-01	TCGA-06-0209-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:149293097T>C	uc003ilj.2	-	c.2483A>G	c.(2482-2484)TAT>TGT	p.Y828C	NR3C2_uc003ilk.2_Missense_Mutation_p.Y711C|NR3C2_uc010iph.1_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	828	Steroid-binding.				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)								0.235294	85.045752	92.665869	28	91	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(119;0.0614)	Missense_Mutation	SNP	149293097	149293097	11036	4	T	C	C	49	49	NR3C2	C	4	4
ADAM29	11086	broad.mit.edu	36	4	176134294	176134294	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:176134294G>A	uc003iuc.1	+	c.1043G>A	c.(1042-1044)CGT>CAT	p.R348H	ADAM29_uc003iud.1_Missense_Mutation_p.R348H|ADAM29_uc003iue.1_Missense_Mutation_p.R348H|ADAM29_uc010irr.1_Missense_Mutation_p.R348H	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	348	Peptidase M12B.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(1)	10		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)				Ovarian(140;1727 1835 21805 25838 41440)				106				0.219424	139.224735	159.386098	61	217	GG		KEEP	---	---	---	---	capture		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	Missense_Mutation	SNP	176134294	176134294	248	4	G	A	A	40	40	ADAM29	A	1	1
KIF3A	11127	broad.mit.edu	36	5	132066526	132066526	+	Nonsense_Mutation	SNP	C	A	A			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:132066526C>A	uc003kxp.1	-	c.1525G>T	c.(1525-1527)GAA>TAA	p.E509*	KIF3A_uc003kxm.1_Nonsense_Mutation_p.E88*|KIF3A_uc003kxn.1_Nonsense_Mutation_p.E491*|KIF3A_uc003kxo.1_Nonsense_Mutation_p.E506*	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	506	Potential.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)												0.330472	412.441991	424.337035	154	312	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Nonsense_Mutation	SNP	132066526	132066526	8611	5	C	A	A	32	32	KIF3A	A	5	3
SPOCK1	6695	broad.mit.edu	36	5	136352172	136352172	+	Silent	SNP	A	G	G			TCGA-06-0209-01	TCGA-06-0209-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:136352172A>G	uc003lbo.1	-	c.766T>C	c.(766-768)TTG>CTG	p.L256L	SPOCK1_uc003lbp.1_Silent_p.L256L	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	256					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1														0.331169	166.881815	170.766921	51	103	AA		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		Silent	SNP	136352172	136352172	15592	5	A	G	G	2	2	SPOCK1	G	4	4
ETF1	2107	broad.mit.edu	36	5	137876397	137876397	+	Silent	SNP	G	T	T			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:137876397G>T	uc003ldc.2	-	c.687C>A	c.(685-687)TCC>TCA	p.S229S	ETF1_uc003ldd.2_Silent_p.S196S|ETF1_uc010jex.1_Non-coding_Transcript|ETF1_uc010jey.1_Silent_p.S35S	NM_004730	NP_004721	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	229					protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			ovary(2)	2														0.129252	29.430121	49.096773	19	128	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Silent	SNP	137876397	137876397	5461	5	G	T	T	39	39	ETF1	T	3	3
PCDHA2	56146	broad.mit.edu	36	5	140156986	140156986	+	Silent	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140156986G>A	uc003lhd.1	+	c.2253G>A	c.(2251-2253)TCG>TCA	p.S751S	PCDHA1_uc003lha.1_Intron|PCDHA1_uc003lhb.1_Intron|PCDHA2_uc003lhc.1_Silent_p.S751S	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	751	Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4														0.442478	147.734559	148.060197	50	63	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Silent	SNP	140156986	140156986	11944	5	G	A	A	38	38	PCDHA2	A	1	1
ARAP3	64411	broad.mit.edu	36	5	141021472	141021472	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:141021472G>A	uc003llm.1	-	c.3082C>T	c.(3082-3084)CGC>TGC	p.R1028C	ARAP3_uc003lln.1_Missense_Mutation_p.R859C|ARAP3_uc003lll.1_5'UTR	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1028	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7														0.247863	140.766586	154.287355	58	176	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	141021472	141021472	851	5	G	A	A	39	39	ARAP3	A	1	1
DDX41	51428	broad.mit.edu	36	5	176876346	176876346	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176876346G>C	uc003mho.1	-	c.124C>G	c.(124-126)CGC>GGC	p.R42G	DDX41_uc003mhm.1_5'Flank|DDX41_uc003mhn.1_5'UTR|DDX41_uc003mhp.1_5'UTR|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	42				PAGGSRSEAEDEDDEDYVPYVPLRQRR -> LPEEAAPRRK MRTTRTTCPMCRYAAP (in Ref. 1; AAF04150).	apoptosis|multicellular organismal development|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)												0.333333	6.721443	6.943129	3	6	GG		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		Missense_Mutation	SNP	176876346	176876346	4532	5	G	C	C	38	38	DDX41	C	3	3
SIM1	6492	broad.mit.edu	36	6	100948304	100948304	+	Silent	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:100948304C>T	uc003pqj.2	-	c.1350G>A	c.(1348-1350)GCG>GCA	p.A450A	SIM1_uc010kct.1_Silent_p.A450A|SIM1_uc010kcu.1_Silent_p.A450A	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	450	Single-minded C-terminal.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)												0.288591	112.567292	118.536172	43	106	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0774)	Silent	SNP	100948304	100948304	14818	6	C	T	T	27	27	SIM1	T	1	1
BCLAF1	9774	broad.mit.edu	36	6	136641323	136641323	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:136641323C>T	uc003qgx.1	-	c.389G>A	c.(388-390)CGC>CAC	p.R130H	BCLAF1_uc003qgw.1_Missense_Mutation_p.R130H|BCLAF1_uc003qgy.1_Missense_Mutation_p.R128H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	130					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|transcription repressor activity			ovary(1)	1	Colorectal(23;0.24)					Colon(142;1534 1789 5427 7063 28491)								0.141667	81.696551	126.268347	51	309	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	Missense_Mutation	SNP	136641323	136641323	1404	6	C	T	T	27	27	BCLAF1	T	1	1
OPRM1	4988	broad.mit.edu	36	6	154454040	154454040	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:154454040G>A	uc003qpq.1	+	c.1090G>A	c.(1090-1092)GTC>ATC	p.V364I	OPRM1_uc003qpn.1_Missense_Mutation_p.V302I|OPRM1_uc003qpo.1_Missense_Mutation_p.V302I|OPRM1_uc003qpp.1_Non-coding_Transcript|OPRM1_uc010kjf.1_Missense_Mutation_p.V364I|OPRM1_uc003qpr.1_Missense_Mutation_p.V302I|OPRM1_uc003qps.1_Non-coding_Transcript|OPRM1_uc003qpt.1_Missense_Mutation_p.V302I|OPRM1_uc010kjg.1_Missense_Mutation_p.V202I|OPRM1_uc003qpu.1_Missense_Mutation_p.V202I	NM_001008504	NP_001008504	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1A	302	Helical; Name=6; (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)			Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)									0.121495	14.806318	29.82231	13	94	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Missense_Mutation	SNP	154454040	154454040	11293	6	G	A	A	40	40	OPRM1	A	1	1
ZNF165	7718	broad.mit.edu	36	6	28161415	28161415	+	Missense_Mutation	SNP	T	C	C			TCGA-06-0209-01	TCGA-06-0209-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:28161415T>C	uc003nkg.1	+	c.178T>C	c.(178-180)TCT>CCT	p.S60P	ZNF165_uc003nkh.1_Missense_Mutation_p.S60P|ZNF165_uc003nki.2_Missense_Mutation_p.S60P	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	60					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.291892	161.679134	168.853449	54	131	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28161415	28161415	18331	6	T	C	C	62	62	ZNF165	C	4	4
ITPR3	3710	broad.mit.edu	36	6	33761460	33761460	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:33761460C>T	uc010jvc.1	+	c.5545C>T	c.(5545-5547)CGC>TGC	p.R1849C	ITPR3_uc003oey.1_5'Flank	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1849	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.R1849C(1)		central_nervous_system(5)|ovary(3)|lung(1)|kidney(1)	10														0.313725	83.662844	86.812962	32	70	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33761460	33761460	8226	6	C	T	T	27	27	ITPR3	T	1	1
C6orf1	221491	broad.mit.edu	36	6	34322597	34322597	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:34322597G>T	uc003ojf.1	-	c.152C>A	c.(151-153)ACC>AAC	p.T51N	C6orf1_uc003ojg.1_Missense_Mutation_p.T51N|C6orf1_uc003ojh.1_Missense_Mutation_p.T51N|C6orf1_uc003oji.1_Non-coding_Transcript	NM_178508	NP_848603	Q86T20	CF001_HUMAN	hypothetical protein LOC221491	51						extracellular region					0		Ovarian(999;0.0228)										OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.2	6.487742	8.166278	4	16	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)	Missense_Mutation	SNP	34322597	34322597	2417	6	G	T	T	44	44	C6orf1	T	3	3
SNAP91	9892	broad.mit.edu	36	6	84348772	84348772	+	Silent	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:84348772C>T	uc003pka.1	-	c.2037G>A	c.(2035-2037)GCG>GCA	p.A679A	SNAP91_uc003pkb.1_Silent_p.A588A|SNAP91_uc003pkc.1_Silent_p.A649A|SNAP91_uc003pkd.1_Silent_p.A372A	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	679					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)												0.340909	43.012299	43.996185	15	29	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(397;0.0967)	Silent	SNP	84348772	84348772	15333	6	C	T	T	27	27	SNAP91	T	1	1
PM20D2	135293	broad.mit.edu	36	6	89924809	89924809	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0209-01	TCGA-06-0209-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:89924809A>G	uc003pmz.1	+	c.959A>G	c.(958-960)AAT>AGT	p.N320S		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	aminoacylase 1-like 2	320							hydrolase activity				0		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)												0.112994	29.549766	55.784561	20	157	AA		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.00813)	Missense_Mutation	SNP	89924809	89924809	12555	6	A	G	G	4	4	PM20D2	G	4	4
ZAN	7455	broad.mit.edu	36	7	100195370	100195370	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:100195370G>A	uc003uwj.1	+	c.3662G>A	c.(3661-3663)AGC>AAC	p.S1221N	ZAN_uc003uwk.1_Missense_Mutation_p.S1221N|ZAN_uc003uwl.1_Non-coding_Transcript|ZAN_uc010lhh.1_Non-coding_Transcript|ZAN_uc010lhi.1_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1221	VWFD 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)													0.195122	15.859747	19.440459	8	33	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.19)		Missense_Mutation	SNP	100195370	100195370	18096	7	G	A	A	34	34	ZAN	A	2	2
C7orf58	79974	broad.mit.edu	36	7	120443133	120443133	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0209-01	TCGA-06-0209-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:120443133A>G	uc003vjq.2	+	c.428A>G	c.(427-429)GAA>GGA	p.E143G	C7orf58_uc003vjs.2_Missense_Mutation_p.E143G|C7orf58_uc003vjr.1_Missense_Mutation_p.E143G	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	143						endoplasmic reticulum				ovary(4)|large_intestine(2)|pancreas(1)	7	all_neural(327;0.117)													0.122449	10.415401	17.252403	6	43	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120443133	120443133	2512	7	A	G	G	9	9	C7orf58	G	4	4
JHDM1D	80853	broad.mit.edu	36	7	139473042	139473042	+	Missense_Mutation	SNP	A	T	T			TCGA-06-0209-01	TCGA-06-0209-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139473042A>T	uc003vvm.1	-	c.752T>A	c.(751-753)GTG>GAG	p.V251E		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	251	JmjC.				midbrain development|oxidation-reduction process|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)													0.158824	50.921911	69.774367	27	143	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	139473042	139473042	8252	7	A	T	T	6	6	JHDM1D	T	4	4
GSTK1	373156	broad.mit.edu	36	7	142674893	142674893	+	Missense_Mutation	SNP	C	T	T	rs41275042	unknown	TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142674893C>T	uc003wcj.1	+	c.650C>T	c.(649-651)ACG>ATG	p.T217M	GSTK1_uc003wci.1_Missense_Mutation_p.T161M	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1 isoform a	161						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity				0	Melanoma(164;0.059)				Glutathione(DB00143)									0.181818	78.568365	99.496324	40	180	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142674893	142674893	7116	7	C	T	T	19	19	GSTK1	T	1	1
NOBOX	135935	broad.mit.edu	36	7	143729428	143729428	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:143729428C>T	uc003wen.1	-	c.488G>A	c.(487-489)CGC>CAC	p.R163H		NM_001080413	NP_001073882			NOBOX oogenesis homeobox											ovary(1)	1	Melanoma(164;0.14)													0.183099	21.492662	28.147657	13	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143729428	143729428	10915	7	C	T	T	27	27	NOBOX	T	1	1
AGAP3	116988	broad.mit.edu	36	7	150471374	150471374	+	Missense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:150471374C>T	uc003wjg.1	+	c.2287C>T	c.(2287-2289)CGC>TGC	p.R763C	AGAP3_uc003wje.1_Missense_Mutation_p.R432C|AGAP3_uc003wjj.1_Missense_Mutation_p.R262C|AGAP3_uc003wjk.1_Missense_Mutation_p.R181C	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	727	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3														0.176	46.125312	58.454499	22	103	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	150471374	150471374	371	7	C	T	T	19	19	AGAP3	T	1	1
RBM33	155435	broad.mit.edu	36	7	155230965	155230965	+	Missense_Mutation	SNP	G	T	T			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:155230965G>T	uc010lqj.1	+	c.2917G>T	c.(2917-2919)GTG>TTG	p.V973L	RBM33_uc010lqk.1_Missense_Mutation_p.V963L|RBM33_uc003wmg.2_5'Flank	NM_001008408	NP_001008408	Q96EV2	RBM33_HUMAN	RNA-binding protein 33 (RNA-binding motif protein 33) (Proline-rich protein 8).	963							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)												0.243902	27.231341	29.680436	10	31	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	Missense_Mutation	SNP	155230965	155230965	13592	7	G	T	T	40	40	RBM33	T	3	3
IKZF1	10320	broad.mit.edu	36	7	50435532	50435532	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:50435532G>A	uc003tow.2	+	c.1273G>A	c.(1273-1275)GGG>AGG	p.G425R	IKZF1_uc003tox.2_Missense_Mutation_p.G383R|IKZF1_uc003toy.2_Missense_Mutation_p.G383R|IKZF1_uc003toz.2_Missense_Mutation_p.G395R|IKZF1_uc010kyx.1_Missense_Mutation_p.G165R|IKZF1_uc003tpa.2_Missense_Mutation_p.G167R	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	425				PHARNGL -> RRAQRV (in Ref. 2; AAB50683).	cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(25)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)								226				0.15	11.531802	16.222299	6	34	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	50435532	50435532	7915	7	G	A	A	39	39	IKZF1	A	1	1
CALCR	799	broad.mit.edu	36	7	92944823	92944823	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:92944823G>A	uc003umv.1	-	c.353C>T	c.(352-354)CCG>CTG	p.P118L	CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003umu.1_Missense_Mutation_p.P100L|CALCR_uc003umw.2_Missense_Mutation_p.P100L	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor	100	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(1)|pancreas(1)	5	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)				Salmon Calcitonin(DB00017)									0.277108	63.29356	67.001692	23	60	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.000244)		Missense_Mutation	SNP	92944823	92944823	2695	7	G	A	A	39	39	CALCR	A	1	1
RB1CC1	9821	broad.mit.edu	36	8	53734007	53734007	+	Missense_Mutation	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:53734007G>A	uc003xre.2	-	c.1772C>T	c.(1771-1773)TCG>TTG	p.S591L	RB1CC1_uc003xrf.2_Missense_Mutation_p.S591L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	591					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|large_intestine(1)	9		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GBM(180;1701 2102 13475 42023 52570)								0.205357	52.362715	61.380775	23	89	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53734007	53734007	13560	8	G	A	A	37	37	RB1CC1	A	1	1
GRIN1	2902	broad.mit.edu	36	9	139175465	139175465	+	Missense_Mutation	SNP	G	C	C			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139175465G>C	uc004cln.1	+	c.1388G>C	c.(1387-1389)GGC>GCC	p.G463A	GRIN1_uc004cli.1_Missense_Mutation_p.G120A|GRIN1_uc004clj.1_Missense_Mutation_p.G442A|GRIN1_uc004clk.1_Missense_Mutation_p.G445A|GRIN1_uc004cll.1_Missense_Mutation_p.G445A|GRIN1_uc004clm.1_Missense_Mutation_p.G445A|GRIN1_uc004clo.1_Missense_Mutation_p.G463A	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	445	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding				0	all_cancers(76;0.0926)				L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	NSCLC(113;717 1653 2089 20474 37618)								0.5	9.076608	9.076608	6	6	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Missense_Mutation	SNP	139175465	139175465	7057	9	G	C	C	42	42	GRIN1	C	3	3
NRK	203447	broad.mit.edu	36	X	105039601	105039601	+	Nonsense_Mutation	SNP	C	T	T			TCGA-06-0209-01	TCGA-06-0209-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:105039601C>T	uc004emd.1	+	c.1312C>T	c.(1312-1314)CGA>TGA	p.R438*	NRK_uc010npc.1_Nonsense_Mutation_p.R106*	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	438	Gln-rich.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14										430				0.531915	73.974397	74.016074	25	22	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	105039601	105039601	11060	23	C	T	T	19	19	NRK	T	5	1
CACNA1F	778	broad.mit.edu	36	X	48969902	48969902	+	Missense_Mutation	SNP	A	G	G			TCGA-06-0209-01	TCGA-06-0209-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48969902A>G	uc004dnb.1	-	c.1409T>C	c.(1408-1410)CTC>CCC	p.L470P	CACNA1F_uc010nip.1_Missense_Mutation_p.L459P	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	470	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)					279				0.333333	7.419167	7.641991	3	6	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48969902	48969902	2659	23	A	G	G	11	11	CACNA1F	G	4	4
KIAA2022	340533	broad.mit.edu	36	X	73880334	73880334	+	Silent	SNP	G	A	A			TCGA-06-0209-01	TCGA-06-0209-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:73880334G>A	uc004eby.1	-	c.783C>T	c.(781-783)TTC>TTT	p.F261F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	261					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|central_nervous_system(1)	14										126				0.60199	395.41204	397.24115	121	80	GG		KEEP	---	---	---	---	capture			Silent	SNP	73880334	73880334	8580	23	G	A	A	37	37	KIAA2022	A	1	1
ZADH2	284273	broad.mit.edu	36	18	71049986	71049987	+	Frame_Shift_Ins	INS	-	C	C			TCGA-06-0209-01	TCGA-06-0209-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:71049986_71049987insC	uc002llx.1	-	c.15_16insG	c.(13-18)GTGCCCfs	p.V5fs	TSHZ1_uc002lly.1_5'Flank	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain	5_6					oxidation-reduction process	peroxisome	oxidoreductase activity|zinc ion binding				0		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)										0.57			4	3				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	71049986	71049987	18094	18	-	C	C	42	42	ZADH2	C	5	5
FAM123C	205147	broad.mit.edu	36	2	131238582	131238582	+	Frame_Shift_Del	DEL	G	-	-			TCGA-06-0209-01	TCGA-06-0209-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131238582_131238582delG	uc002trw.2	+	c.2467_2467delG	c.(2467-2469)GGGfs	p.G823fs	FAM123C_uc010fms.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmv.1_Frame_Shift_Del_p.G823fs	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	823										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)										0.41			7	10				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	131238582	131238582	5621	2	G	-	-	35	35	FAM123C	-	5	5
