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
OR6T1	219874	broad.mit.edu	37	11	123814285	123814285	+	Silent	SNP	C	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:123814285C>T	uc010sab.2	-	0	261	c.261G>A	c.(259-261)acG>acA	p.T87T		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T87T(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGTGATCCCCCGTGAGGATGA	0.507000														80			3		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75301975	75301975	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr14:75301975G>A	uc001xqj.4	+	19	6426	c.6302G>A	c.(6301-6303)tGg>tAg	p.W2101*	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1906					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TAGGTCAGATGGGCAGACCTG	0.458000														50			3		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233347864	233347864	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:233347864C>T	uc002vsv.2	-	8	1737	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	ECEL1_uc010fya.1_Missense_Mutation_p.G511D|ECEL1_uc010fyb.1_Missense_Mutation_p.G218D	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	511					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTCCGGGTAGCCGACCATCAC	0.657000														160			10		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69320701	69320701	+	Silent	SNP	C	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr15:69320701C>T	uc002ars.2	+	2	362	c.321C>T	c.(319-321)atC>atT	p.I107I	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.I89I|NOX5_uc002arp.2_Silent_p.I89I|NOX5_uc010bid.2_Silent_p.I100I|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Silent_p.I107I	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	107	EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	p.G106R(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGTATGACATCGATGGTAAGG	0.592000														78			3		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115418696	115418696	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:115418696A>G	uc001efr.3	+	9	873	c.664A>G	c.(664-666)Ata>Gta	p.I222V	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.I222V|SYCP1_uc009wgw.3_Missense_Mutation_p.I222V	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	222					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		TCAGAAAATGATAACAGCTTT	0.274000														138			4		0	0	1	0	0
TYMP	1890	broad.mit.edu	37	22	50965605	50965605	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr22:50965605C>T	uc003bme.4	-	5	946	c.754G>A	c.(754-756)Gca>Aca	p.A252T	SCO2_uc003bma.3_5'Flank|SCO2_uc003blz.4_5'Flank|SCO2_uc021wrz.1_5'Flank|SCO2_uc021wsa.1_5'Flank|SCO2_uc021wsb.1_5'Flank|TYMP_uc003bmb.4_Missense_Mutation_p.A252T|TYMP_uc003bmc.4_Missense_Mutation_p.A252T|TYMP_uc010hbd.3_Missense_Mutation_p.A252T|TYMP_uc003bmd.4_Missense_Mutation_p.A252T	NM_001953	NP_001944	P19971	TYPH_HUMAN	Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA.	252					DNA replication|angiogenesis|cell differentiation|chemotaxis|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	AGCGTCTTTGCCAGCTCCCGG	0.652000														41			3		0	0	1	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128246857	128246857	+	Silent	SNP	T	G	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr9:128246857T>G	uc004bpv.3	-	8	1405	c.1072A>C	c.(1072-1074)Agg>Cgg	p.R358R	MAPKAP1_uc011lzt.2_Silent_p.R161R|MAPKAP1_uc010mwz.3_Non-coding_Transcript|MAPKAP1_uc011lzu.2_Silent_p.R166R|MAPKAP1_uc011lzv.2_Silent_p.R66R|MAPKAP1_uc004bpw.3_Silent_p.R166R|MAPKAP1_uc004bpx.3_Silent_p.R166R|MAPKAP1_uc004bpy.3_Silent_p.R322R|MAPKAP1_uc004bpz.3_Intron|MAPKAP1_uc010mxa.3_Non-coding_Transcript	NM_001006617	NP_001006622	Q9BPZ7	SIN1_HUMAN	Homo sapiens mitogen-activated protein kinase associated protein 1 (MAPKAP1), transcript variant 1, mRNA.	358					T cell costimulation|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CCGTCTGCCCTTGAACCTGGG	0.413000														89			61		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36190999	36190999	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr14:36190999T>C	uc001wtj.3	-	15	2552	c.2161A>G	c.(2161-2163)Agt>Ggt	p.S721G	RALGAPA1_uc001wti.3_Missense_Mutation_p.S721G|RALGAPA1_uc010tpv.2_Missense_Mutation_p.S721G|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S721G|RALGAPA1_uc001wtk.1_Missense_Mutation_p.S572G	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	721					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGATCACGACTCCATCCTCTA	0.433000														83			4		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128483327	128483327	+	Silent	SNP	C	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:128483327C>T	uc003vnz.4	+	16	2804	c.2595C>T	c.(2593-2595)caC>caT	p.H865H	FLNC_uc003voa.4_Silent_p.H865H	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	865					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACCCATCCCACGATGCCAGCA	0.642000														77			4		0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131046910	131046910	+	Splice_Site	SNP	A	G	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr9:131046910A>G	uc004bup.3	+	3	548	c.548_splice	c.e3+1	p.E183_splice	SWI5_uc010mxx.1_Splice_Site_p.E183_splice	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA.	183					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										TTCGTATCTGAGTAAGTTTCA	0.512000														57			4		0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113342326	113342326	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr3:113342326G>T	uc021xcn.1	+	22	2809	c.2158G>T	c.(2158-2160)Ggc>Tgc	p.G720C	SIDT1_uc003eak.3_Missense_Mutation_p.G715C|SIDT1_uc011big.2_Missense_Mutation_p.G468C|SIDT1_uc021xcq.1_Missense_Mutation_p.G174C|SIDT1_uc011bii.2_Missense_Mutation_p.G168C	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	715						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CTACATGCTGGGCATCTTCAT	0.567000														71			3		0.004672	0.004672	1	1	0
CREG2	200407	broad.mit.edu	37	2	102000023	102000023	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:102000023G>T	uc002tba.2	-	1	629	c.583C>A	c.(583-585)Ctg>Atg	p.L195M		NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN	Homo sapiens cellular repressor of E1A-stimulated genes 2 (CREG2), mRNA.	195						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GATTCTGGCAGCATCAGCGAG	0.547000														42			4		1.23904e-05	1.29804e-05	1	1	0
MYH13	8735	broad.mit.edu	37	17	10263502	10263502	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr17:10263502C>G	uc002gmk.1	-	5	599	c.509G>C	c.(508-510)cGa>cCa	p.R170P		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	170	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGGTTGTCTCGATCTAGAAA	0.418000														98			4		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126776527	126776527	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr5:126776527G>A	uc003kuh.4	+	18	2692	c.2330G>A	c.(2329-2331)cGc>cAc	p.R777H	MEGF10_uc003kui.4_Missense_Mutation_p.R777H	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	777	EGF-like 14.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGTACTTGCCGCACTGGATTC	0.468000														81			10		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49052452	49052452	+	Silent	SNP	A	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr15:49052452A>T	uc001zwz.3	-	18	2767	c.2574T>A	c.(2572-2574)gcT>gcA	p.A858A	CEP152_uc001zwy.3_Silent_p.A858A|CEP152_uc001zxa.2_Silent_p.A765A	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	858					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CATTTTGCACAGCTATTTCTA	0.393000														69			3		0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44984494	44984494	+	Missense_Mutation	SNP	A	G	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr20:44984494A>G	uc010zxp.2	-	5	535	c.442T>C	c.(442-444)Tca>Cca	p.S148P	SLC35C2_uc002xro.3_Missense_Mutation_p.S119P|SLC35C2_uc002xrp.3_Missense_Mutation_p.S119P|SLC35C2_uc002xrq.3_Missense_Mutation_p.S119P|SLC35C2_uc002xrr.3_Missense_Mutation_p.S119P|SLC35C2_uc010zxn.2_Missense_Mutation_p.S5P|SLC35C2_uc010zxo.2_Missense_Mutation_p.S5P	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	119					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				AGGACAGCTGAGGATTTGGTC	0.527000														90			4		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	98006782	98006782	+	Missense_Mutation	SNP	T	C	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr10:98006782T>C	uc001kls.4	-	1	249	c.71A>G	c.(70-72)gAt>gGt	p.D24G	BLNK_uc001kme.4_5'UTR|BLNK_uc001klt.4_5'UTR|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_5'UTR|BLNK_uc001klv.4_Missense_Mutation_p.D24G|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.D24G|BLNK_uc001kly.4_Missense_Mutation_p.D24G|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.D24G|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_5'UTR|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	24					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GTTTTTAATATCATGGACCAT	0.269000														67			4		0	0	1	0	0
NR4A1	3164	broad.mit.edu	37	12	52448851	52448851	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr12:52448851G>A	uc001rzs.3	+	2	1058	c.739G>A	c.(739-741)Gat>Aat	p.D247N	NR4A1_uc010sno.2_Missense_Mutation_p.D260N|NR4A1_uc001rzr.2_Missense_Mutation_p.D247N|NR4A1_uc009zmb.2_Missense_Mutation_p.D247N|NR4A1_uc001rzt.3_Missense_Mutation_p.D247N|NR4A1_uc009zmc.3_5'Flank	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	247					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGGGATACTGGATACACCCGT	0.627000														64			4		0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116759716	116759716	+	Silent	SNP	T	C	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:116759716T>C	uc003vin.3	+	2	550	c.336T>C	c.(334-336)tcT>tcC	p.S112S	ST7_uc011knl.2_Silent_p.S112S|ST7_uc003vio.3_Silent_p.S112S|ST7_uc003viq.3_Silent_p.S66S|ST7_uc011knm.2_Silent_p.S69S|ST7_uc003vir.3_Silent_p.S60S|ST7-AS2_uc003viu.3_Intron|ST7-AS2_uc003viw.3_Intron|ST7_uc003vix.1_5'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	112						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACAACAACTCTTCCAACAATT	0.413000														74			4		0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16731518	16731518	+	Missense_Mutation	SNP	C	T	T	rs140528029		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:16731518C>T	uc001ayn.3	-	7	1238	c.755G>A	c.(754-756)gGc>gAc	p.G252D	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Missense_Mutation_p.G229D	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	252							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CACAGAGAAGCCCATTAGGAG	0.587000														53			3		0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78178060	78178060	+	Missense_Mutation	SNP	T	A	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr17:78178060T>A	uc002jxw.1	+	16	2512	c.2318T>A	c.(2317-2319)aTc>aAc	p.I773N	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc010wud.1_Non-coding_Transcript	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	773					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	p.R772C(1)|p.I773I(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCCGCATCGTCAGTATG	0.572000														132			4		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090725	91090725	+	Silent	SNP	G	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chrX:91090725G>T	uc004efk.2	+	0	1067	c.222G>T	c.(220-222)ctG>ctT	p.L74L	PCDH11X_uc004efl.2_Silent_p.L74L|PCDH11X_uc010nmv.2_Silent_p.L74L|PCDH11X_uc004efm.2_Silent_p.L74L|PCDH11X_uc004efn.2_Silent_p.L74L|PCDH11X_uc004efo.2_Silent_p.L74L|PCDH11X_uc004efh.2_Silent_p.L74L|PCDH11X_uc004efj.1_Silent_p.L74L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	74	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATGTGCCACTGATTCGAATTG	0.453000														239			29		8.16721e-17	8.98393e-17	1	1	0
NEAT1	283131	broad.mit.edu	37	11	65190292	65190292	+	RNA	SNP	C	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:65190292C>T	uc010rog.2	+	0		c.24C>T								Homo sapiens nuclear paraspeckle assembly transcript 1 (non-protein coding) (NEAT1), non-coding RNA.																		GGGAGGGATGCGCGCCTGGGT	0.597000														11			7		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36167554	36167554	+	Silent	SNP	A	G	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr13:36167554A>G	uc021rid.1	+	46	7800	c.7266A>G	c.(7264-7266)agA>agG	p.R2422R	NBEA_uc021ric.1_Silent_p.R2419R|NBEA_uc010abi.3_Silent_p.R1078R|NBEA_uc010tee.1_Silent_p.R215R|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Silent_p.R215R|NBEA_uc010teg.1_Silent_p.R215R|NBEA_uc001uvd.3_5'UTR	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2422	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGTCTTGGAGAACTAGTCAGA	0.343000														106			4		0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147646106	147646106	+	Nonsense_Mutation	SNP	C	A	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr6:147646106C>A	uc003qlz.3	+	16	1989	c.1814C>A	c.(1813-1815)tCa>tAa	p.S605*	STXBP5_uc010khz.2_Nonsense_Mutation_p.S605*|STXBP5_uc003qly.3_Nonsense_Mutation_p.S276*|STXBP5_uc003qma.3_5'UTR	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	605					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTTAAAAACTCACCACTTAAA	0.333000														129			15		4.63292e-17	5.22689e-17	1	1	0
ILKAP	80895	broad.mit.edu	37	2	239090747	239090747	+	Nonsense_Mutation	SNP	A	C	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:239090747A>C	uc002vxv.3	-	8	925	c.795T>G	c.(793-795)taT>taG	p.Y265*	ILKAP_uc010zns.2_Nonsense_Mutation_p.Y197*|ILKAP_uc002vxw.3_Nonsense_Mutation_p.Y145*|ILKAP_uc021vyt.1_Non-coding_Transcript|ILKAP_uc021vyu.1_Nonsense_Mutation_p.Y147*|ILKAP_uc010znt.1_Nonsense_Mutation_p.Y145*	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA.	265	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TCCGCTCTTCATACTGAGTTG	0.483000														212			12		0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323273	15323273	+	RNA	SNP	G	C	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr18:15323273G>C	uc002ktd.1	-	2		c.186C>G								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		CTTATCAACTGCAATTGCATT	0.313000														339			9		0	0	1	0	0
BC018860	0	broad.mit.edu	37	MT	7059	7059	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chrM:7059G>A	uc011mfh.2	+	0	1159	c.158G>A	c.(157-159)tGt>tAt	p.C53Y	JA429830_uc022bqp.1_5'Flank|JA429831_uc022bqq.1_5'Flank|JA429505_uc022bqr.1_5'Flank|OK/SW-cl.16_uc011mfi.2_5'Flank|AD_1_uc022bqu.1_5'Flank					Homo sapiens cDNA: FLJ22894 fis, clone KAT04907.																		CAATAGGAGCTGTATTTGCCA	0.433000														80			22		0	0	1	0	0
DUSP21	63904	broad.mit.edu	37	X	44703528	44703528	+	Silent	SNP	C	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chrX:44703528C>T	uc004dgd.3	+	0	280	c.150C>T	c.(148-150)gcC>gcT	p.A50A		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA.	50	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						GCATCACCGCCATTGTCAATG	0.512000														15			42		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88383883	88383883	+	Silent	SNP	C	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:88383883C>T	uc002ssr.3	+	1	271	c.186C>T	c.(184-186)ctC>ctT	p.L62L	SMYD1_uc002ssq.2_Silent_p.L62L|MIR4780_uc021vkp.1_5'Flank	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.L62L(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGGAGAAGCTCCATCGCTGTG	0.512000														146			4		0	0	1	0	0
C11orf20	25858	broad.mit.edu	37	11	64068336	64068336	+	Missense_Mutation	SNP	T	G	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:64068336T>G	uc009ypm.3	+	1	1294	c.229T>G	c.(229-231)Tac>Gac	p.Y77D	KCNK4_uc001nzm.4_Non-coding_Transcript	NM_001039496	NP_001034585	Q9NTU4	CK020_HUMAN	Homo sapiens chromosome 11 open reading frame 20 (C11orf20), mRNA.	77					cell differentiation|spermatogenesis	cytoplasm				kidney(1)	1						GGACGAGGGGTACAAGGCCAG	0.667000											OREG0021050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			8		0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51449713	51449713	+	Missense_Mutation	SNP	C	G	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr12:51449713C>G	uc009zlw.3	+	4	666	c.608C>G	c.(607-609)tCc>tGc	p.S203C	LETMD1_uc010smz.2_Missense_Mutation_p.S140C|LETMD1_uc010sna.2_Intron|LETMD1_uc001rxm.3_Missense_Mutation_p.S190C|LETMD1_uc001rxn.3_Missense_Mutation_p.S33C|LETMD1_uc001rxo.3_Non-coding_Transcript|LETMD1_uc001rxr.3_Intron|LETMD1_uc001rxl.3_Missense_Mutation_p.S134C|LETMD1_uc001rxt.3_Intron	NM_001243689	NP_001230618	Q6P1Q0	LTMD1_HUMAN	Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	190	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CGGAAGCAGTCCCACCCAGAA	0.448000														111			4		0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100038086	100038086	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr2:100038086C>T	uc002tad.3	-	10	1918	c.1706G>A	c.(1705-1707)tGt>tAt	p.C569Y	REV1_uc002tac.3_Missense_Mutation_p.C568Y	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	569	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGCTTCATCACAACTGACAGC	0.438000								Direct reversal of damage						153			21		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126369744	126369744	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr4:126369744G>A	uc003ifj.4	+	8	7573	c.7573G>A	c.(7573-7575)Gcc>Acc	p.A2525T	FAT4_uc011cgp.2_Missense_Mutation_p.A823T|FAT4_uc003ifi.1_Missense_Mutation_p.A3T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2525	Cadherin 24.				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						CATTATGGCCGCCGGACCACT	0.418000														115			6		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16941101	16941101	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr10:16941101C>T	uc001ioo.3	-	53	8544	c.8492G>A	c.(8491-8493)tGt>tAt	p.C2831Y	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Missense_Mutation_p.C187Y	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2831	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGTCCAGGAACATCTGCTGTT	0.428000														165			14		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151855973	151855973	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr7:151855973G>A	uc003wla.3	-	43	11864	c.11645C>T	c.(11644-11646)aCt>aTt	p.T3882I	MLL3_uc003wkz.3_Missense_Mutation_p.T2943I|MLL3_uc003wkx.3_5'Flank|MLL3_uc003wky.3_Missense_Mutation_p.T1391I	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3882					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAACGTGTCAGTGCTAGAGTA	0.488000			N		medulloblastoma									159			9		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30139748	30139748	+	Silent	SNP	C	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr6:30139748C>T	uc010jrx.3	+	6	1499	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	340	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGGTTCTGGGCTTCCCGGGCT	0.701000														45			3		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260459	16260459	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:16260459C>T	uc001axk.1	+	10	7928	c.7724C>T	c.(7723-7725)cCa>cTa	p.P2575L	SPEN_uc010obp.1_Missense_Mutation_p.P2534L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2575	RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCGCCCCCGCCAGTTGACTCT	0.522000														32			3		0	0	1	0	0
OXTR	5021	broad.mit.edu	37	3	8809619	8809619	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr3:8809619G>T	uc003brc.3	-	2	877	c.255C>A	c.(253-255)gaC>gaA	p.D85E		NM_000916	NP_000907	P30559	OXYR_HUMAN	Homo sapiens oxytocin receptor (OXTR), mRNA.	85					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	CCACCACCAGGTCGGCGATGC	0.627000														68			6		1.76689e-08	1.89618e-08	1	1	0
LCE3C	353144	broad.mit.edu	37	1	152573449	152573449	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:152573449G>A	uc001fac.2	+	0	312	c.242G>A	c.(241-243)gGc>gAc	p.G81D		NM_178434	NP_848521	Q5T5A8	LCE3C_HUMAN	Homo sapiens late cornified envelope 3C (LCE3C), mRNA.	81					keratinization					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		GGTCAGCAAGGCGGGGGCTCC	0.602000														71			4		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869241	36869241	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr20:36869241G>T	uc002xhy.1	-	2	1564	c.1292C>A	c.(1291-1293)gCa>gAa	p.A431E	KIAA1755_uc002xhz.1_Missense_Mutation_p.A431E	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	431										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTGCAGCTGCAGGAGAAGC	0.562000														37			3		0.00116845	0.00119562	1	1	0
MTL5	9633	broad.mit.edu	37	11	68514791	68514791	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:68514791G>A	uc001ooc.3	-	2	655	c.515C>T	c.(514-516)cCg>cTg	p.P172L	MTL5_uc001ood.1_Missense_Mutation_p.P172L|MTL5_uc009ysi.1_Missense_Mutation_p.P172L|MTL5_uc001ooe.3_Missense_Mutation_p.P172L	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	172					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	p.P172Q(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGCTTCTTCCGGATTATTACT	0.423000														82			39		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103153739	103153739	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr11:103153739C>A	uc001phn.1	+	73	10980	c.10836C>A	c.(10834-10836)gaC>gaA	p.D3612E	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.D3605E	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3605					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TATTAAAGGACTCTCAACAAA	0.313000														43			27		5.91797e-21	6.85238e-21	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13615200	13615200	+	Silent	SNP	T	C	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr4:13615200T>C	uc003gmz.1	-	4	1377	c.1260A>G	c.(1258-1260)gaA>gaG	p.E420E	BOD1L1_uc010idr.1_5'UTR|BOD1L1_uc010ids.1_Non-coding_Transcript	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	420	Lys-rich.						DNA binding										CAGTATCTTCTTCAAAAGATG	0.388000														246			5		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073232	197073232	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr1:197073232delT	uc001gtu.3	-	17	5406	c.5149delA	c.(5149-5151)atafs	p.I1717fs	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1717					mitosis	cytoplasm|nucleus	calmodulin binding	p.I1717fs*1(4)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTGCAGCTATTTTTTTGGAA	0.373													---	128	---	---	7	---					
CELSR3	1951	broad.mit.edu	37	3	48694660	48694661	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr3:48694660_48694661insG	uc003cuf.1	-	3	4079_4080	c.4079_4080insC	c.(4078-4080)ccgfs	p.P1360fs	CELSR3_uc003cul.3_Frame_Shift_Ins_p.P1290fs	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1290					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCAGCAGCGGTGACAGGAA	0.634													---	125	---	---	8	---					
HLA-DPB1	3115	broad.mit.edu	37	6	33048688	33048689	+	Frame_Shift_Ins	INS	-	A	A	rs115755983	by1000genomes	TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr6:33048688_33048689insA	uc003ocu.2	+	1	456_457	c.340_341insA	c.(340-342)gggfs	p.G114fs	HLA-DPA1_uc021ywg.1_5'Flank|HLA-DPA1_uc021ywh.1_5'Flank|HLA-DPB1_uc011dqn.2_Non-coding_Transcript|HLA-DPB1_uc011dqo.2_Non-coding_Transcript|HLA-DPB1_uc011dqq.1_Frame_Shift_Ins_p.G10fs	NM_002121	NP_002112	P04440	DPB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.	114	Beta-1.		G -> E (in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*03:02, allele DPB1*04:03, allele DPB1*05:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*08:01, allele DPB1*08:02, allele DPB1*09:01, allele DPB1*09:02, allele DPB1*10:01, allele DPB1*11:01, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*14:01, allele DPB1*14:02, allele DPB1*16:01, allele DPB1*17:01, allele DPB1*17:02, allele DPB1*19:01, allele DPB1*21:01, allele DPB1*21:02, allele DPB1*20:01, allele DPB1*22:01, allele DPB1*22:02, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*29:01, allele DPB1*30:01, allele DPB1*31:01, allele DPB1*35:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*38:01, allele DPB1*44:01, allele DPB1*45:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*56:01, allele DPB1*57:01, allele DPB1*58:01, allele DPB1*63:01, allele DPB1*65:01, allele DPB1*67:01, allele DPB1*68:01, allele DPB1*69:01, allele DPB1*70:01, allele DPB1*76:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*84:01, allele DPB1*85:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*89:01, allele DPB1*90:01, allele DPB1*91:01, allele DPB1*92:01, allele DPB1*93:01, allele DPB1*97:01 and allele DPB1*98:01; dbSNP:rs9277354).		T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CGAGCTGGGCGGGCCCATGACC	0.708													---	8	---	---	4	---					
TSC1	7248	broad.mit.edu	37	9	135797337	135797349	+	Frame_Shift_Del	DEL	CGAGATAGACTTC	-	-	rs118203393		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr9:135797337_135797349delCGAGATAGACTTC	uc004cca.2	-	6	754_766	c.520_532delGAAGTCTATCTCG	c.(520-534)gaagtctatctcgtcfs	p.E174fs	TSC1_uc004ccb.3_Frame_Shift_Del_p.E174fs|TSC1_uc011mcq.1_Frame_Shift_Del_p.E123fs|TSC1_uc011mcr.2_Frame_Shift_Del_p.E53fs|TSC1_uc011mcs.1_Frame_Shift_Del_p.E53fs|TSC1_uc004ccc.1_Frame_Shift_Del_p.E174fs|TSC1_uc004cce.1_Frame_Shift_Del_p.E174fs	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	174					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.E174*(2)|p.V178L(2)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGGAGATGGACGAGATAGACTTCCGCCACGTGG	0.474			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				---	48	---	---	8	---					
SIRT1	23411	broad.mit.edu	37	10	69644881	69644883	+	In_Frame_Del	DEL	GGC	-	-	rs36062014		TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr10:69644881_69644883delGGC	uc001jnd.3	+	0	455_457	c.402_404delGGC	c.(400-405)gaggcg>gag	p.A139del	SIRT1_uc010qis.2_5'Flank|SIRT1_uc009xpp.3_5'Flank	NM_012238	NP_001135970	Q96EB6	SIRT1_HUMAN	Homo sapiens sirtuin 1 (SIRT1), transcript variant 1, mRNA.	139	Interaction with HIST1H1E.				DNA repair|DNA replication|apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of DNA repair|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|rRNA processing|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	PML body|chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|rDNA heterochromatin	HLH domain binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|bHLH transcription factor binding|histone binding|identical protein binding|mitogen-activated protein kinase binding|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						aggaggaagaggcggcggcggcg	0.700													---	4	---	---	2	---					
FCGBP	8857	broad.mit.edu	37	19	40396331	40396332	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KL-8326-01A-11D-2310-10	TCGA-KL-8326-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4729fe4b-c1ac-489b-a67e-91e5c5e3ff8c	5d6a5ba0-8213-4f89-85e0-021e4b4cc894	g.chr19:40396331_40396332insC	uc002omp.4	-	14	7073_7074	c.7065_7066insG	c.(7063-7068)ccgagcfs	p.P2355fs		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2355	Cys-rich.|TIL 5.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCGACAGGCTCGGGCAGCTCC	0.649													---	4	---	---	2	---					
