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	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	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	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
C14orf21	161424	broad.mit.edu	37	14	24773484	24773484	+	Splice_Site	SNP	G	A	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr14:24773484G>A	uc001wol.1	+	8	1710	c.1647_splice	c.e8+1	p.K549_splice	C14orf21_uc001wom.1_Splice_Site_p.K100_splice	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	549							RNA binding			breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17				GBM - Glioblastoma multiforme(265;0.0185)		GAACCTAAAGGTTAGATTTCT	0.517000														19			22		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41514495	41514495	+	Silent	SNP	G	A	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr21:41514495G>A	uc002yyq.1	-	17	3848	c.3396C>T	c.(3394-3396)ctC>ctT	p.L1132L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1132	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.L1132L(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCGTCCATGAGGTTGGCCC	0.478000														39			30		0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63223821	63223821	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:63223821C>A	uc002sby.3	+	20	3718	c.3236C>A	c.(3235-3237)gCa>gAa	p.A1079E	EHBP1_uc010fcp.3_Missense_Mutation_p.A1008E|EHBP1_uc002sbz.3_Missense_Mutation_p.A1008E|EHBP1_uc002scb.3_Missense_Mutation_p.A1044E	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	1079						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GGAGAATTGGCAGCACTAGAG	0.448000														88			7		0.000157383	0.000161755	1	1	0
CSF2RB	1439	broad.mit.edu	37	22	37333576	37333576	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:37333576G>A	uc003aqa.4	+	13	1943	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T	CSF2RB_uc003aqc.4_Missense_Mutation_p.A582T	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	576					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.A576A(2)|p.A575S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCGCCTGCCGCCTCCCACAC	0.652000														45			8		0	0	1	0	0
AGBL4	84871	broad.mit.edu	37	1	49100247	49100247	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:49100247C>T	uc010omx.1	-	8	1063	c.905G>A	c.(904-906)cGt>cAt	p.R302H	AGBL4_uc001cru.2_Missense_Mutation_p.R290H|AGBL4_uc010omw.1_Missense_Mutation_p.R23H|AGBL4_uc010omy.1_Missense_Mutation_p.R113H|AGBL4_uc001crv.1_Missense_Mutation_p.R143H	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	Homo sapiens ATP/GTP binding protein-like 4 (AGBL4), mRNA.	290					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CAGCCAGTGACGATTCAGATC	0.468000														14			55		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131521	35131521	+	Silent	SNP	G	A	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr7:35131521G>A	uc003teq.1	-	19	2172	c.1065C>T	c.(1063-1065)agC>agT	p.S355S	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		ACAGCTTGACGCTTGCCATTG	0.398000														190			4		0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906354	144906354	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:144906354A>G	uc022cfn.1	+	0	2411	c.2411A>G	c.(2410-2412)tAt>tGt	p.Y804C	SLITRK2_uc004fcd.3_Missense_Mutation_p.Y804C|SLITRK2_uc010nsp.3_Missense_Mutation_p.Y804C|SLITRK2_uc010nso.3_Missense_Mutation_p.Y804C|SLITRK2_uc011mwq.2_Missense_Mutation_p.Y804C|SLITRK2_uc011mwr.2_Missense_Mutation_p.Y804C|SLITRK2_uc011mws.2_Missense_Mutation_p.Y804C|SLITRK2_uc004fcg.3_Missense_Mutation_p.Y804C|SLITRK2_uc011mwt.2_Missense_Mutation_p.Y804C|CXorf1_uc004fch.3_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	804						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGTTTTATATGGAACTCCC	0.448000														157			4		0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407015	148407015	+	Silent	SNP	A	G	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr5:148407015A>G	uc003lpu.3	-	10	2432	c.2280T>C	c.(2278-2280)tgT>tgC	p.C760C	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Silent_p.C404C|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Silent_p.C307C|SH3TC2_uc010jgx.3_Silent_p.C753C|SH3TC2_uc003lpv.1_Silent_p.C307C|SH3TC2_uc011dbz.1_Silent_p.C645C	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	760							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGGATGAGACACAGGGCCC	0.617000														78			4		0	0	1	0	0
COMMD6	170622	broad.mit.edu	37	13	76111919	76111919	+	Missense_Mutation	SNP	G	A	A	rs143172831		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr13:76111919G>A	uc001vjn.1	-	0	73	c.23C>T	c.(22-24)cCg>cTg	p.P8L	COMMD6_uc001vjo.1_Missense_Mutation_p.P8L|COMMD6_uc010aet.1_Non-coding_Transcript	NM_203497	NP_987093	Q7Z4G1	COMD6_HUMAN	Homo sapiens COMM domain containing 6 (COMMD6), transcript variant 1, mRNA.	8						cytoplasm|nucleus	protein binding	p.P7L(1)		breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		AGCATCCAGCGGCGGCTCGCT	0.607000														29			23		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141819781	141819781	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:141819781T>C	uc002tvj.1	-	7	2047	c.1075A>G	c.(1075-1077)Atg>Gtg	p.M359V	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	359					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTCGGTTCATCCCATCCATG	0.428000										TSP Lung(27;0.18)				66			4		0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47812501	47812501	+	Missense_Mutation	SNP	T	G	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr18:47812501T>G	uc002leq.4	-	3	1083	c.350A>C	c.(349-351)gAc>gCc	p.D117A	CXXC1_uc002lep.4_5'UTR|CXXC1_uc002ler.4_Missense_Mutation_p.D117A|CXXC1_uc010doy.3_Missense_Mutation_p.D117A	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	117				D -> N (in Ref. 1; AAF37799).	histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GCGCTGCAGGTCTGGATCAGG	0.662000														30			22		0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56737009	56737009	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:56737009C>T	uc003hbe.1	+	5	927	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	EXOC1_uc003hbf.1_Missense_Mutation_p.H257Y|EXOC1_uc003hbg.1_Missense_Mutation_p.H257Y	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	257					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGAAAGCAACCACCTAATTCA	0.343000														93			58		0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19854348	19854348	+	Silent	SNP	C	T	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:19854348C>T	uc004czm.3	-	1	373	c.57G>A	c.(55-57)acG>acA	p.T19T		NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	19	SH3 1.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCACGCTGATCGTCAGCTCAT	0.512000														3			48		0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86167918	86167918	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:86167918C>T	uc001dlh.3	-	4	1090	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	ZNHIT6_uc010osc.2_Missense_Mutation_p.R275Q	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	314					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ACCTTGCCTCCGGGCACGATT	0.294000														83			3		0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71165682	71165682	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr17:71165682A>G	uc002jje.3	+	1	584	c.224A>G	c.(223-225)aAg>aGg	p.K75R	SSTR2_uc021ucm.1_Missense_Mutation_p.K75R	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	75					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			GCCAAGATGAAGACCATCACC	0.488000														103			4		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3417849	3417849	+	Splice_Site	SNP	G	A	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:3417849G>A	uc003ggw.3	+	7	3331	c.2427_splice	c.e7+1	p.Q809_splice	RGS12_uc010ics.1_Splice_Site_p.Q8_splice|RGS12_uc003ggv.3_Splice_Site_p.Q809_splice|RGS12_uc003ggy.1_Splice_Site_p.Q207_splice|RGS12_uc010ict.1_Splice_Site_p.Q161_splice|RGS12_uc003ggz.3_Splice_Site_p.Q161_splice|RGS12_uc010icu.1_Splice_Site_p.Q8_splice|RGS12_uc011bvs.2_Splice_Site_p.Q151_splice|RGS12_uc003gha.3_Splice_Site_p.Q151_splice|RGS12_uc010icv.3_Splice_Site_p.Q8_splice|RGS12_uc003ghb.2_Splice_Site_p.Q8_splice	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	809	RGS.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGCTGCAGGTAACCGCAGG	0.617000														69			49		0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70627428	70627428	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:70627428C>T	uc004dzu.4	+	26	4160	c.4109C>T	c.(4108-4110)cCt>cTt	p.P1370L	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.P1391L|TAF1_uc004dzv.4_Missense_Mutation_p.P544L|TAF1_uc010nld.1_Non-coding_Transcript|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1370	Interaction with ASF1A and ASF1B.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCTTAGAGACCTCATAAGTCC	0.468000														74			39		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871660	8871660	+	Silent	SNP	G	A	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:8871660G>A	uc002qzc.2	-	29	4688	c.4506C>T	c.(4504-4506)ctC>ctT	p.L1502L	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.L1403L|KIDINS220_uc002qzb.2_Silent_p.L356L	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1502					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGTCTGGAAGAGGCTTGACC	0.468000														24			70		0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47653265	47653265	+	Splice_Site	SNP	T	C	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr11:47653265T>C	uc010rho.2	-	6	559	c.370_splice	c.e6-1	p.T124_splice	MTCH2_uc010rhp.2_Intron	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	Homo sapiens mitochondrial carrier 2 (MTCH2), nuclear gene encoding mitochondrial protein, mRNA.	124					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TCGAGTTGTCTAGAAACAATC	0.418000														52			3		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46763729	46763729	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:46763729A>G	uc003bhw.1	-	27	7976	c.7976T>C	c.(7975-7977)cTc>cCc	p.L2659P		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2659	Poly-Leu.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCAGCAGGAGGAATGCGGT	0.642000											OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		144			6		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169837136	169837136	+	Silent	SNP	T	C	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:169837136T>C	uc011cjx.2	+	16	3019	c.2808T>C	c.(2806-2808)gaT>gaC	p.D936D	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Silent_p.D919D|PALLD_uc003irv.3_Silent_p.D537D|PALLD_uc003irw.3_Silent_p.D432D|PALLD_uc003irx.3_Silent_p.D145D	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1143					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTCCTGGAGATCTGACTGTTC	0.448000									Pancreatic Cancer, Familial Clustering of					81			4		0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219610500	219610500	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:219610500C>T	uc002viy.3	+	6	2243	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	TTLL4_uc010zkl.1_Missense_Mutation_p.R460W|TTLL4_uc010fvx.3_Missense_Mutation_p.R625W|TTLL4_uc010zkm.1_5'Flank	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	625	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GACCATTGGACGGTCCCACTT	0.502000														23			50		0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43297257	43297257	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr5:43297257T>C	uc003jnr.4	-	4	793	c.586A>G	c.(586-588)Aca>Gca	p.T196A	HMGCS1_uc003jnp.4_5'Flank|HMGCS1_uc003jnq.4_Missense_Mutation_p.T196A	NM_001098272	NP_002121	Q01581	HMCS1_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) (HMGCS1), transcript variant 1, mRNA.	196					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TGCATATGTGTCCCACGAAGC	0.368000														95			4		0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71845079	71845079	+	Missense_Mutation	SNP	T	G	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr9:71845079T>G	uc004ahe.3	+	10	1920	c.1602T>G	c.(1600-1602)ttT>ttG	p.F534L	TJP2_uc011lrs.2_Missense_Mutation_p.F511L|TJP2_uc011lrt.1_Missense_Mutation_p.F511L|TJP2_uc004ahd.3_Missense_Mutation_p.F534L|TJP2_uc004ahf.3_Missense_Mutation_p.F534L|TJP2_uc011lru.2_Missense_Mutation_p.F538L|TJP2_uc011lrv.2_Missense_Mutation_p.F565L	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	534	PDZ 3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCGGGATATTTGTTGCTGGCA	0.517000														38			30		0	0	1	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4445319	4445319	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr16:4445319C>T	uc002cwf.3	-	6	1029	c.586G>A	c.(586-588)Gac>Aac	p.D196N	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_5'UTR|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.D196N|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.D178N|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.D111N|CORO7-PAM16_uc002cwi.1_5'UTR|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_5'UTR	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		GTTCTGGGGTCAAAGATCCGC	0.602000														58			5		0	0	1	0	0
LEPREL4	10609	broad.mit.edu	37	17	39963092	39963092	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr17:39963092C>G	uc002hxu.3	-	6	1569	c.1375G>C	c.(1375-1377)Gag>Cag	p.E459Q	LEPREL4_uc002hxt.3_Missense_Mutation_p.E368Q	NM_006455	NP_006446	Q92791	SC65_HUMAN	Homo sapiens leprecan-like 4 (LEPREL4), mRNA.	368					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCCAGCAGCTCCCGCAGCTCG	0.592000														7			17		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131189141	131189141	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr7:131189141C>A	uc003vqw.4	-	8	1864	c.1606G>T	c.(1606-1608)Gac>Tac	p.D536Y	PODXL_uc003vqx.4_Missense_Mutation_p.D504Y	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	536					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATCCAGCTGTCCCCCAGCTCC	0.577000														66			43		2.46787e-29	2.76701e-29	1	1	0
FAT4	79633	broad.mit.edu	37	4	126389910	126389910	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:126389910T>C	uc003ifj.4	+	10	12143	c.12143T>C	c.(12142-12144)cTc>cCc	p.L4048P	FAT4_uc011cgp.2_Missense_Mutation_p.L2311P|FAT4_uc003ifi.1_Missense_Mutation_p.L1526P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4048	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACATATAAGCTCACCACCATG	0.408000														78			51		0	0	1	0	0
IGFBP5	3488	broad.mit.edu	37	2	217559222	217559222	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:217559222G>T	uc002vgj.4	-	0	1051	c.277C>A	c.(277-279)Ctg>Atg	p.L93M		NM_000599	NP_000590	P24593	IBP5_HUMAN	Homo sapiens insulin-like growth factor binding protein 5 (IGFBP5), mRNA.	93	IGFBP N-terminal.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGCAGCAGGGCGTGCAGC	0.701000														4			16		3.62473e-10	3.83186e-10	1	1	0
FAM26F	441168	broad.mit.edu	37	6	116784510	116784510	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr6:116784510G>A	uc003pwv.3	+	2	685	c.590G>A	c.(589-591)cGa>cAa	p.R197Q		NM_001010919	NP_001010919	Q5R3K3	FA26F_HUMAN	Homo sapiens family with sequence similarity 26, member F (FAM26F), mRNA.	197						integral to membrane		p.R197R(1)		large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		TCTGTCACCCGATGCCTATCT	0.378000														13			29		0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53239928	53239928	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:53239928C>T	uc004drz.3	-	10	2046	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S	KDM5C_uc022bxe.1_Missense_Mutation_p.G438S|KDM5C_uc004dsa.3_Missense_Mutation_p.G504S	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	505	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AAGACCATGCCCACGTAGAGC	0.522000			"""N, F, S"""		clear cell renal carcinoma									164			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068199	9068199	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr19:9068199T>C	uc002mkp.3	-	2	19451	c.19247A>G	c.(19246-19248)aAg>aGg	p.K6416R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6418	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATTGTGGGCTTTTCAGTGCC	0.488000														314			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179480474	179480474	+	Silent	SNP	A	G	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:179480474A>G	uc021vsy.1	-	206	40875	c.40650T>C	c.(40648-40650)gaT>gaC	p.D13550D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.D7245D|TTN_uc021vta.1_Silent_p.D7178D|TTN_uc021vtb.1_Silent_p.D7053D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14477	Ig-like 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGAACAAGATCAGGAACTG	0.378000														70			4		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35800935	35800935	+	Nonsense_Mutation	SNP	G	T	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr19:35800935G>T	uc002nyy.2	+	7	1588	c.1390G>T	c.(1390-1392)Gag>Tag	p.E464*	MAG_uc002nyx.2_Nonsense_Mutation_p.E464*|MAG_uc010eds.2_Nonsense_Mutation_p.E439*|MAG_uc002nyz.2_Nonsense_Mutation_p.E464*	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	464	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGTGTACTCGGAGCGCAGCGG	0.677000														25			18		1.50039e-11	1.63278e-11	1	1	0
DSPP	1834	broad.mit.edu	37	4	88535754	88535754	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:88535754G>T	uc003hqu.3	+	4	2060	c.1940G>T	c.(1939-1941)aGc>aTc	p.S647I		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	647	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gacagcaacagcagtgacagt	0.488000														140			108		4.53158e-46	5.23964e-46	1	1	0
LRCH4	4034	broad.mit.edu	37	7	100174729	100174729	+	Silent	SNP	C	A	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr7:100174729C>A	uc003uvj.3	-	11	1397	c.1344G>T	c.(1342-1344)gtG>gtT	p.V448V	LRCH4_uc010lgz.3_Intron|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc022aiq.1_5'Flank|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	448					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTGAGTGGACACGGCGGCGG	0.602000														41			3		0.00909568	0.00909568	1	1	0
GAB4	128954	broad.mit.edu	37	22	17443634	17443634	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:17443634C>T	uc002zlw.3	-	9	1822	c.1714G>A	c.(1714-1716)Gcc>Acc	p.A572T		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	572								p.G571G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CACAGCTTGGCGCCCCTGGGA	0.597000														24			22		0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113671391	113671392	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:113671391_113671392insC	uc002tij.3	+	1	147_148	c.105_106insC	c.(103-108)gaaccafs	p.E35fs	IL37_uc002tim.3_Intron|IL37_uc002tik.3_Intron|IL37_uc002til.3_Frame_Shift_Ins_p.E35fs|IL37_uc002tin.3_5'Flank	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	35					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GCCCCCTGGAACCAGGCCCAAG	0.550													---	152	---	---	7	---					
MFSD10	10227	broad.mit.edu	37	4	2935348	2935349	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:2935348_2935349insA	uc003gfw.3	-	1	527_528	c.213_214insT	c.(211-216)tttgccfs	p.F71fs	MFSD10_uc021xks.1_5'UTR|MFSD10_uc003gfz.3_Frame_Shift_Ins_p.F71fs|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank|NOP14-AS1_uc003ggg.1_5'Flank|NOP14-AS1_uc003ggh.3_5'Flank	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	71					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ATGGCGGTGGCAAACCAGTCCA	0.629													---	145	---	---	7	---					
ANKRD18A	253650	broad.mit.edu	37	9	38577058	38577058	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr9:38577058delT	uc004abg.4	-	13	2811	c.2733delA	c.(2731-2733)aaafs	p.K911fs	ANKRD18A_uc004abb.1_Non-coding_Transcript|ANKRD18A_uc010mmc.1_Non-coding_Transcript|ANKRD18A_uc010mmd.1_Frame_Shift_Del_p.K32fs|ANKRD18A_uc004abf.1_Frame_Shift_Del_p.K588fs	NM_147195	NP_671728	Q8IVF6	AN18A_HUMAN	Homo sapiens ankyrin repeat domain 18A (ANKRD18A), mRNA.	911										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						ACTTCATTAATTTTTTTGACA	0.323													---	318	---	---	8	---					
PTEN	5728	broad.mit.edu	37	10	89711920	89711926	+	Frame_Shift_Del	DEL	TACCTGT	-	-			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr10:89711920_89711926delTACCTGT	uc001kfb.3	+	5	1570_1576	c.538_544delTACCTGT	c.(538-546)tacctgttafs	p.Y180fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	180	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|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 protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.S179fs*3(2)|p.L182fs*16(2)|p.Y27fs*1(2)|p.Y180*(2)|p.Y27_N212>Y(2)|p.S179I(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.L182F(1)|p.V175fs*3(1)|p.L181fs*2(1)|p.L182*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTATTATAGCTACCTGTTAAAGAATCA	0.377		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	12	---	---	11	---					
APEX1	328	broad.mit.edu	37	14	20925577	20925578	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr14:20925577_20925578delCT	uc001vxg.3	+	4	1199_1200	c.867_868delCT	c.(865-870)cactctfs	p.H289fs	OSGEP_uc001vxf.3_5'Flank|APEX1_uc001vxh.3_Frame_Shift_Del_p.H289fs|APEX1_uc001vxi.3_Frame_Shift_Del_p.H289fs|APEX1_uc021rnr.1_Frame_Shift_Del_p.H289fs	NM_001641	NP_001632	P27695	APEX1_HUMAN	Homo sapiens APEX nuclease (multifunctional DNA repair enzyme) 1 (APEX1), transcript variant 1, mRNA.	289	Mitochondrial targeting sequence (MTS).				DNA demethylation|DNA recombination|base-excision repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|RNA binding|chromatin DNA binding|damaged DNA binding|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TGTTGTCCCACTCTCTGTTACC	0.485								Other BER factors					---	195	---	---	11	---					
