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
LRRC8D	55144	broad.mit.edu	37	1	90399406	90399406	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:90399406A>T	uc021opq.1	+	0	779	c.779A>T	c.(778-780)aAa>aTa	p.K260I	LRRC8D_uc001dnm.3_Missense_Mutation_p.K260I|LRRC8D_uc001dnn.3_Missense_Mutation_p.K260I	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	260						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ACTGGCTTTAAATTTTCAGCT	0.458000														23			15		0	0	0.003163	0	0
PCF11	51585	broad.mit.edu	37	11	82877600	82877600	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr11:82877600A>G	uc001ozx.4	+	4	2006	c.1661A>G	c.(1660-1662)gAt>gGt	p.D554G	PCF11_uc010rsu.1_Missense_Mutation_p.D554G	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	554					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATATTCGGGATCCAAGGCGA	0.423000														45			16		0	0	0.006122	0	0
HMCN1	83872	broad.mit.edu	37	1	185984290	185984290	+	Splice_Site	SNP	G	A	A	rs11267350		TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:185984290G>A	uc001grq.1	+	31	4860	c.4631_splice	c.e31-1	p.I1544_splice		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1544					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCCTTTGTAGTTCCACCTAG	0.338000														46			30		0	0	0.010818	0	0
TTN	7273	broad.mit.edu	37	2	179585887	179585887	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:179585887G>A	uc021vsy.1	-	75	19352	c.19127C>T	c.(19126-19128)gCa>gTa	p.A6376V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A3037V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7303	Ig-like 45.						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)			TCCCTGCTTTGCAACTTTTGA	0.358000														48			6		0	0	0.001168	0	0
TRIO	7204	broad.mit.edu	37	5	14381318	14381318	+	Missense_Mutation	SNP	A	G	G	rs34701068		TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr5:14381318A>G	uc003jff.3	+	20	3533	c.3527A>G	c.(3526-3528)cAg>cGg	p.Q1176R	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.Q1127R|TRIO_uc003jfh.1_Missense_Mutation_p.Q825R	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1176					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CAGCACACCCAGGAGCTCCTG	0.493000														105			5		0	0	0.001168	0	0
CHRNB1	1140	broad.mit.edu	37	17	7357711	7357711	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr17:7357711C>G	uc002ghb.3	+	7	957	c.916C>G	c.(916-918)Ccc>Gcc	p.P306A	CHRNB1_uc010vty.2_Missense_Mutation_p.P234A|CHRNB1_uc010vtz.1_Missense_Mutation_p.P140A	NM_000747	NP_000738	P11230	ACHB_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA.	306					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				ACTATCAGTACCCATTATTAT	0.512000														123			42		0	0	0.014410	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468362	35468362	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr21:35468362G>A	uc021wir.1	+	0	865	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	SLC5A3_uc002yto.3_Missense_Mutation_p.A289T|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	289						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GGTCCTTGCAGCCAAAAACAT	0.478000														96			72		0	0	0.014410	0	0
UBP1	7342	broad.mit.edu	37	3	33434887	33434887	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr3:33434887G>C	uc003cfq.4	-	13	1980	c.1450C>G	c.(1450-1452)Ctg>Gtg	p.L484V	FBXL2_uc011axr.1_Intron|FBXL2_uc011axq.1_Intron|UBP1_uc003cfr.4_Missense_Mutation_p.L448V|UBP1_uc010hga.3_Missense_Mutation_p.L484V	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	484					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TTAAACACCAGCGCAAGTTTT	0.348000														20			73		0	0	0.014410	0	0
MEF2B	100271849	broad.mit.edu	37	19	19258537	19258537	+	Silent	SNP	A	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr19:19258537A>C	uc002nlp.2	-	5	1090	c.363T>G	c.(361-363)ggT>ggG	p.G121G	MEF2B_uc002nll.2_Silent_p.G121G|MEF2B_uc010xqo.1_Silent_p.G121G|MEF2B_uc010xqp.1_Silent_p.G121G|MEF2B_uc002nlo.2_Silent_p.G121G|MEF2B_uc002nlk.2_Silent_p.G124G	NM_005919	NP_005910			Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA.									p.G120R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			AGGCCGGATCACCCCCTTCGC	0.627000														31			6		0	0	0.008871	0	0
SLC16A13	201232	broad.mit.edu	37	17	6942204	6942204	+	Silent	SNP	C	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr17:6942204C>G	uc002geh.3	+	2	1385	c.1077C>G	c.(1075-1077)ctC>ctG	p.L359L		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	359						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GGCCTCCTCTCTCAGGTAAGT	0.537000														145			11		0	0	0.010729	0	0
CREG1	8804	broad.mit.edu	37	1	167515357	167515357	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:167515357A>G	uc001gel.3	-	2	718	c.640T>C	c.(640-642)Tat>Cat	p.Y214H		NM_003851	NP_003842	O75629	CREG1_HUMAN	Homo sapiens cellular repressor of E1A-stimulated genes 1 (CREG1), mRNA.	214					cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity										ACATTATAATATTCTTCTGGT	0.438000														35			26		0	0	0.004656	0	0
ASAP2	8853	broad.mit.edu	37	2	9533671	9533671	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:9533671T>C	uc002qzh.2	+	23	2919	c.2579T>C	c.(2578-2580)tTg>tCg	p.L860S	ASAP2_uc002qzi.2_Missense_Mutation_p.L815S	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	860	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ATGGAAGCCTTGAGCCAGCCG	0.701000														9			4		0	0	0.001168	0	0
CRIP3	401262	broad.mit.edu	37	6	43275360	43275360	+	Silent	SNP	T	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr6:43275360T>C	uc010jyn.2	-	3	318	c.318A>G	c.(316-318)caA>caG	p.Q106Q	CRIP3_uc003ouu.1_Silent_p.Q106Q	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	Homo sapiens cysteine-rich protein 3 (CRIP3), mRNA.	106						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TTTTCTTGCCTTGGGGGAGGC	0.642000														60			39		0	0	0.006230	0	0
SLC6A16	28968	broad.mit.edu	37	19	49793532	49793532	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr19:49793532G>T	uc002pmz.3	-	11	2293	c.2059C>A	c.(2059-2061)Ccc>Acc	p.P687T	SLC6A16_uc002pna.3_3'UTR	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	687						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GGCCTGAAGGGAATCCTATGT	0.512000														219			7		0.00198382	0.00217097	0.001984	1	0
FRS3	10817	broad.mit.edu	37	6	41739084	41739084	+	Missense_Mutation	SNP	C	T	T	rs137923290	byFrequency	TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr6:41739084C>T	uc003orc.1	-	6	996	c.752G>A	c.(751-753)cGg>cAg	p.R251Q		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	251					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CACCATGTGCCGCCGAGCAGG	0.637000														38			23		0	0	0.002780	0	0
EIF5B	9669	broad.mit.edu	37	2	100015354	100015354	+	Silent	SNP	A	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:100015354A>C	uc002tab.3	+	22	3721	c.3537A>C	c.(3535-3537)acA>acC	p.T1179T	EIF5B_uc010yvq.2_Silent_p.T161T	NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	1179					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGAAGCTACAGATATTCTTG	0.398000														44			26		0	0	0.009535	0	0
POTEH	23784	broad.mit.edu	37	22	16287580	16287580	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr22:16287580G>T	uc010gqp.2	-	0	358	c.306C>A	c.(304-306)tgC>tgA	p.C102*	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	102										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AGCAGTGGCAGCACCACTTGC	0.597000														122			124		1.34836e-70	1.77738e-70	0.014410	1	0
ZNF688	146542	broad.mit.edu	37	16	30581595	30581595	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr16:30581595G>A	uc002dyt.2	-	2	1251	c.473C>T	c.(472-474)gCc>gTc	p.A158V	ZNF688_uc002dys.2_Missense_Mutation_p.A144V|ZNF785_uc002dyu.3_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	Homo sapiens zinc finger protein 688 (ZNF688), transcript variant 1, mRNA.	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CGGGTCCCAGGCAGCATTTTT	0.672000														19			18		0	0	0.004990	0	0
ZFP28	140612	broad.mit.edu	37	19	57066282	57066282	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr19:57066282T>C	uc002qnj.3	+	7	2199	c.2128T>C	c.(2128-2130)Ttt>Ctt	p.F710L	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TGGGAAGGCCTTTGGTGATAA	0.443000														70			40		0	0	0.006230	0	0
PARP8	79668	broad.mit.edu	37	5	50137860	50137860	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr5:50137860A>T	uc003jon.4	+	26	2705	c.2523A>T	c.(2521-2523)aaA>aaT	p.K841N	PARP8_uc011cpz.2_Missense_Mutation_p.K733N|PARP8_uc003joo.3_Missense_Mutation_p.K841N|PARP8_uc003jop.3_Missense_Mutation_p.K799N	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	841	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCATTCACAAAGAGATCCTCC	0.358000														46			30		0	0	0.004289	0	0
GPR98	84059	broad.mit.edu	37	5	89989974	89989974	+	Silent	SNP	A	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr5:89989974A>T	uc003kju.3	+	32	7497	c.7401A>T	c.(7399-7401)acA>acT	p.T2467T	GPR98_uc003kjt.3_Silent_p.T173T|GPR98_uc003kjv.3_Silent_p.T67T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2467					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGGATGACATCATGGATCA	0.488000														28			22		0	0	0.010504	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468283	66468283	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr11:66468283G>T	uc001ojd.3	-	15	3359	c.3287C>A	c.(3286-3288)aCc>aAc	p.T1096N		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1096					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCAGGCAGGGTGGCCGGCCC	0.692000														10			12		4.3838e-07	5.08521e-07	0.001855	1	0
OGFRL1	79627	broad.mit.edu	37	6	72011098	72011098	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr6:72011098C>A	uc003pfx.1	+	6	865	c.702C>A	c.(700-702)caC>caA	p.H234Q		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	234						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						GGTCCCAGCACAACTATTTAA	0.358000														386			212		6.16554e-93	8.22072e-93	0.014410	1	0
TMEM132A	54972	broad.mit.edu	37	11	60696113	60696113	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr11:60696113G>C	uc001nqi.3	+	3	740	c.547G>C	c.(547-549)Gcc>Ccc	p.A183P	TMEM132A_uc001nqj.3_Missense_Mutation_p.A183P|TMEM132A_uc001nqk.3_Missense_Mutation_p.A196P|TMEM132A_uc001nql.1_Missense_Mutation_p.A196P	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	183						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ATCCCTGGGCGCCTGCGTGGT	0.642000														37			31		0	0	0.005524	0	0
SNX19	399979	broad.mit.edu	37	11	130785820	130785820	+	Silent	SNP	T	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr11:130785820T>A	uc001qgk.4	-	0	563	c.15A>T	c.(13-15)acA>acT	p.T5T	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Silent_p.T5T|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	5					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACGGTGGCACTGTTTCTGTCT	0.542000														14			13		0	0	0.013537	0	0
RNF216	54476	broad.mit.edu	37	7	5781025	5781025	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr7:5781025A>G	uc003sox.2	-	3	882	c.623T>C	c.(622-624)cTg>cCg	p.L208P	RNF216_uc010ksz.2_5'UTR|RNF216_uc010kta.2_Intron|RNF216_uc003soy.2_Missense_Mutation_p.L151P|RNF216_uc011jwj.2_Intron	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	151					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATTTGATAACAGCTCTGTCTC	0.458000														196			93		0	0	0.014410	0	0
SNORA76	677842	broad.mit.edu	37	17	62223780	62223780	+	RNA	SNP	C	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr17:62223780C>A	uc002jeb.3	+	0		c.82C>A								Homo sapiens small nucleolar RNA, H/ACA box 76 (SNORA76), small nucleolar RNA.																		TTGCGCATAACTGGGGCCGCC	0.627000														112			66		3.8128e-34	4.86027e-34	0.014410	1	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2525	2525	+	RNA	SNP	C	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chrGL000237.1:2525C>A	uc011mgu.1	-	0		c.162G>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctcaggccaccctcctaacac	0.637000														4			4		0.00909568	0.00986074	0.009096	1	0
SPATA20	64847	broad.mit.edu	37	17	48627419	48627419	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr17:48627419G>A	uc002ird.3	+	7	1077	c.936G>A	c.(934-936)atG>atA	p.M312I	SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_Missense_Mutation_p.M252I|SPATA20_uc002irf.3_Missense_Mutation_p.M296I|SPATA20_uc010wmv.1_Missense_Mutation_p.M322I|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	296					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCCAGCAGATGGCCTTGCATA	0.617000														381			6		0	0	0.001168	0	0
FBXO45	200933	broad.mit.edu	37	3	196304554	196304554	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr3:196304554A>T	uc010iai.3	+	1	680	c.549A>T	c.(547-549)caA>caT	p.Q183H		NM_001105573	NP_001099043	P0C2W1	FBSP1_HUMAN	Homo sapiens F-box protein 45 (FBXO45), mRNA.	183	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGCAGTGCCAAGGTTATGTGG	0.547000														4			21		0	0	0.008871	0	0
DPF2	5977	broad.mit.edu	37	11	65113198	65113198	+	Silent	SNP	G	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr11:65113198G>A	uc001odm.3	+	6	832	c.699G>A	c.(697-699)ttG>ttA	p.L233L	DPF2_uc010roe.2_Intron	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	233					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ACTCCCACTTGGCTGAGGAGG	0.512000														34			22		0	0	0.014323	0	0
NCOA6	23054	broad.mit.edu	37	20	33329544	33329544	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr20:33329544T>C	uc002xav.3	-	11	7087	c.4516A>G	c.(4516-4518)Aaa>Gaa	p.K1506E	NCOA6_uc002xaw.3_Missense_Mutation_p.K1506E|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.K1506E|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1506					DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCAGGGGGTTTAATTGTCACA	0.463000														60			40		0	0	0.006230	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161019045	161019045	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:161019045C>T	uc001fxl.3	-	11	2112	c.1766G>A	c.(1765-1767)tGt>tAt	p.C589Y	ARHGAP30_uc001fxk.3_Missense_Mutation_p.C589Y|ARHGAP30_uc001fxm.3_Missense_Mutation_p.C435Y|ARHGAP30_uc009wtx.3_Missense_Mutation_p.C262Y|ARHGAP30_uc001fxn.1_Missense_Mutation_p.C435Y	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	589					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTCCAGGGAACAGCAGCTGGG	0.572000														137			45		0	0	0.013114	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656328	40656328	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:40656328G>T	uc002rrx.3	-	0	1117	c.1093C>A	c.(1093-1095)Cgc>Agc	p.R365S	SLC8A1_uc002rry.3_Missense_Mutation_p.R365S|SLC8A1_uc002rsb.2_Missense_Mutation_p.R365S|SLC8A1_uc002rrz.3_Missense_Mutation_p.R365S|SLC8A1_uc002rsa.3_Missense_Mutation_p.R365S|SLC8A1_uc002rsd.4_Missense_Mutation_p.R365S|SLC8A1_uc010fan.1_Missense_Mutation_p.R365S|SLC8A1_uc002rsc.1_Missense_Mutation_p.R365S	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	365					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.R365L(1)|p.R365H(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTTGAATGCGATAAAATGCT	0.433000														211			9		3.86212e-05	4.30775e-05	0.008291	1	0
ATN1	1822	broad.mit.edu	37	12	7045767	7045767	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr12:7045767C>A	uc001qrw.1	+	4	1574	c.1337C>A	c.(1336-1338)cCt>cAt	p.P446H	ATN1_uc001qrx.1_Missense_Mutation_p.P446H|ATN1_uc001qry.1_Missense_Mutation_p.P445H	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	446	Poly-Pro.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCACCACCTCCTCCCTATGGC	0.627000														172			115		8.46469e-41	1.091e-40	0.014410	1	0
ODZ1	10178	broad.mit.edu	37	X	123518587	123518587	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chrX:123518587G>C	uc010nqy.3	-	29	6258	c.6194C>G	c.(6193-6195)aCc>aGc	p.T2065S	ODZ1_uc011muj.2_Missense_Mutation_p.T2064S|ODZ1_uc004euj.3_Missense_Mutation_p.T2058S	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2058					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AGGCAAAGGGGTTTCATTGAT	0.393000														13			63		0	0	0.014410	0	0
AGBL2	79841	broad.mit.edu	37	11	47711964	47711964	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr11:47711964T>G	uc001ngg.3	-	9	1597	c.1295A>C	c.(1294-1296)aAt>aCt	p.N432T	AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Missense_Mutation_p.N394T|AGBL2_uc001ngh.1_Missense_Mutation_p.N376T	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	432					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GTAAACGGTATTTCCTGCTAG	0.498000														94			29		0	0	0.005443	0	0
TAF1	6872	broad.mit.edu	37	X	70643918	70643918	+	Splice_Site	SNP	T	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chrX:70643918T>C	uc004dzu.4	+	31	4716	c.4665_splice	c.e31+2	p.K1555_splice	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Splice_Site_p.K1576_splice|TAF1_uc004dzv.4_Splice_Site_p.K729_splice|TAF1_uc010nld.1_Splice_Site|TAF1_uc010nle.1_Splice_Site|TAF1_uc010nlf.1_Splice_Site|TAF1_uc004dzx.2_Splice_Site|TAF1_uc004dzy.2_Splice_Site|TAF1_uc004dzw.1_Splice_Site	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.	1555	Bromo 2.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				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)				ATACGTAAGGTGAGTGAGTGA	0.373000														15			44		0	0	0.010771	0	0
ZFP28	140612	broad.mit.edu	37	19	57066298	57066298	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr19:57066298C>A	uc002qnj.3	+	7	2215	c.2144C>A	c.(2143-2145)tCc>tAc	p.S715Y	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GATAACTCATCCTGTACTCAA	0.433000														79			40		4.74526e-06	5.34418e-06	0.006230	1	0
HDHD2	84064	broad.mit.edu	37	18	44639349	44639349	+	Splice_Site	SNP	A	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr18:44639349A>T	uc002lcs.3	-	6	809	c.676_splice	c.e6+1	p.G226_splice	HDHD2_uc002lct.3_Splice_Site_p.G136_splice	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.	226							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						GATACATACCAGTCTTTACTA	0.408000														48			21		0	0	0.003330	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42105966	42105966	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr15:42105966G>A	uc001zok.4	+	9	1271	c.985G>A	c.(985-987)Gtc>Atc	p.V329I	MAPKBP1_uc010bci.3_Missense_Mutation_p.V323I|MAPKBP1_uc010udb.2_Missense_Mutation_p.V211I|MAPKBP1_uc001zoj.4_Missense_Mutation_p.V323I|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Intron	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	329								p.V323I(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CATTGCTAGCGTCACCGAGGC	0.592000														95			35		0	0	0.005524	0	0
SMG1	23049	broad.mit.edu	37	16	18937330	18937330	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr16:18937330T>C	uc002dfm.3	-	0	397	c.34A>G	c.(34-36)Agc>Ggc	p.S12G		NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	12	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736000														7			2		0	0	0.004672	0	0
RANBP9	10048	broad.mit.edu	37	6	13622632	13622632	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr6:13622632A>G	uc003nbb.3	-	13	2211	c.2152T>C	c.(2152-2154)Tcc>Ccc	p.S718P	RANBP9_uc003nba.3_Missense_Mutation_p.S377P	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Homo sapiens RAN binding protein 9 (RANBP9), mRNA.	718	Interaction with FMR1.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			AATGCGCAGGATCCAATTCCT	0.473000														102			3		0	0	0.000602	0	0
MTF1	4520	broad.mit.edu	37	1	38323066	38323066	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:38323066T>C	uc001cce.1	-	1	406	c.265A>G	c.(265-267)Atg>Gtg	p.M89V	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	89						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTGGGACATTGCTTCATGA	0.468000														151			3		0	0	0.009096	0	0
PIAS1	8554	broad.mit.edu	37	15	68479999	68479999	+	Silent	SNP	T	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr15:68479999T>C	uc002aqz.3	+	13	1875	c.1782T>C	c.(1780-1782)agT>agC	p.S594S		NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	594	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ATCAGTTAAGTGCAGGAGGCA	0.502000														37			30		0	0	0.008361	0	0
NRBP1	29959	broad.mit.edu	37	2	27664588	27664588	+	Missense_Mutation	SNP	G	A	A	rs141700147		TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:27664588G>A	uc002rko.3	+	18	2349	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	NRBP1_uc002rkp.3_Missense_Mutation_p.R506Q|NRBP1_uc002rkr.3_Missense_Mutation_p.R297Q|KRTCAP3_uc002rks.3_5'Flank|KRTCAP3_uc010ylr.2_5'Flank|KRTCAP3_uc021vfd.1_5'Flank|KRTCAP3_uc002rkt.3_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA.	506					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	p.R506Q(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GACCAGAGCCGGTTGACTTCT	0.547000														165			107		0	0	0.014410	0	0
ALOXE3	59344	broad.mit.edu	37	17	8018295	8018295	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr17:8018295G>A	uc002gka.3	-	3	1014	c.983C>T	c.(982-984)gCc>gTc	p.A328V	ALOXE3_uc010cnr.3_Missense_Mutation_p.A172V|ALOXE3_uc010vuo.2_Missense_Mutation_p.A304V|ALOXE3_uc010vup.2_Non-coding_Transcript	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	172	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTTTGTCAAGGCAAATTTCTT	0.507000														307			6		0	0	0.001984	0	0
DNAH7	56171	broad.mit.edu	37	2	196749321	196749321	+	Silent	SNP	T	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:196749321T>C	uc002utj.4	-	34	5852	c.5751A>G	c.(5749-5751)caA>caG	p.Q1917Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1917					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGTGACAAATTGATAATCAT	0.433000														68			26		0	0	0.006320	0	0
LURAP1L	286343	broad.mit.edu	37	9	12821680	12821680	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr9:12821680G>T	uc003zkw.3	+	1	1311	c.608G>T	c.(607-609)aGt>aTt	p.S203I		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	Homo sapiens chromosome 9 open reading frame 150 (C9orf150), mRNA.	206																	GACCAATTCAGTGACAGCTCC	0.507000														117			77		5.16434e-52	6.73104e-52	0.014410	1	0
POMGNT1	55624	broad.mit.edu	37	1	46654508	46654508	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:46654508G>T	uc001cpg.3	-	22	2781	c.2130C>A	c.(2128-2130)aaC>aaA	p.N710K	POMGNT1_uc010olx.2_3'UTR|POMGNT1_uc010oly.2_Non-coding_Transcript|POMGNT1_uc010olz.2_3'UTR|POMGNT1_uc001cpe.3_3'UTR|POMGNT1_uc001cpf.3_3'UTR	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.	0					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CTGTCCATGGGTTGGGCACAG	0.577000														52			9		5.4927e-09	6.50157e-09	0.004482	1	0
OR56A5	390084	broad.mit.edu	37	11	5989644	5989644	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr11:5989644C>A	uc010qzu.2	-	0	81	c.81G>T	c.(79-81)caG>caT	p.Q27H		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	27						integral to membrane|plasma membrane	olfactory receptor activity										ACAGCCAGTGCTGCCAGCTCT	0.532000														6			7		2.0095e-06	2.28531e-06	0.001984	1	0
SASS6	163786	broad.mit.edu	37	1	100572514	100572514	+	Silent	SNP	A	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:100572514A>C	uc001dsu.3	-	11	1503	c.1362T>G	c.(1360-1362)gtT>gtG	p.V454V	SASS6_uc009wdz.3_Silent_p.V287V	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	Homo sapiens spindle assembly 6 homolog (C. elegans) (SASS6), mRNA.	454					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CAAGTTTTTTAACTGTAGCTT	0.249000														21			10		0	0	0.006214	0	0
PTPRF	5792	broad.mit.edu	37	1	44058242	44058242	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:44058242C>G	uc001cjr.3	+	10	2123	c.1783C>G	c.(1783-1785)Ccc>Gcc	p.P595A	PTPRF_uc001cjs.3_Missense_Mutation_p.P595A|PTPRF_uc001cju.3_Missense_Mutation_p.P166A|PTPRF_uc009vwt.3_Missense_Mutation_p.P166A|PTPRF_uc001cjv.3_Missense_Mutation_p.P166A	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	595	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGTCTTCACCCCCACCATTGA	0.602000														43			29		0	0	0.005443	0	0
ZNF295	49854	broad.mit.edu	37	21	43412280	43412280	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr21:43412280C>T	uc021wjo.1	-	0	1925	c.1925G>A	c.(1924-1926)gGc>gAc	p.G642D	ZNF295_uc002yzz.4_Intron|ZNF295_uc002zab.4_Missense_Mutation_p.G642D|ZNF295_uc002yzy.4_Missense_Mutation_p.G642D|ZNF295_uc002zaa.4_Missense_Mutation_p.G642D	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	642					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						ACCAGGCTTGCCGCGCCTTAA	0.438000														129			4		0	0	0.009096	0	0
TCF7L1	83439	broad.mit.edu	37	2	85536242	85536242	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:85536242T>C	uc002soy.3	+	11	1649	c.1424T>C	c.(1423-1425)aTg>aCg	p.M475T		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	475					Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CACGGGAGCATGCTGGACTCC	0.652000														139			71		0	0	0.014410	0	0
CENPM	79019	broad.mit.edu	37	22	42342456	42342456	+	Silent	SNP	C	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr22:42342456C>G	uc003bbn.3	-	1	170	c.102G>C	c.(100-102)tcG>tcC	p.S34S	bK250D10.C22.8_uc003bba.1_Intron|CENPM_uc003bbo.3_Silent_p.S34S|CENPM_uc003bbp.1_Silent_p.S34S	NM_024053	NP_076958	Q9NSP4	CENPM_HUMAN	Homo sapiens centromere protein M (CENPM), transcript variant 1, mRNA.	34					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						CTTTGAGCATCGAGTCCGCCA	0.647000											OREG0026600	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			4		0	0	0.009096	0	0
WBP11P1	441818	broad.mit.edu	37	18	30091940	30091940	+	RNA	SNP	A	C	C	rs2015877	by1000genomes	TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr18:30091940A>C	uc010dmc.3	+	0		c.315A>C								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GTTTGAGCTGAAGTTTTAAAG	0.418000														75			3		0	0	0.004672	0	0
VPS13D	55187	broad.mit.edu	37	1	12327038	12327038	+	Silent	SNP	T	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:12327038T>C	uc001atv.3	+	13	1836	c.1695T>C	c.(1693-1695)acT>acC	p.T565T	VPS13D_uc001atw.3_Silent_p.T565T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	565					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGAAGGAACTATGTTTCCTC	0.408000														118			23		0	0	0.014323	0	0
MSH6	2956	broad.mit.edu	37	2	48027125	48027125	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:48027125C>G	uc002rwd.4	+	3	2155	c.2003C>G	c.(2002-2004)tCc>tGc	p.S668C	MSH6_uc002rwc.2_Missense_Mutation_p.S668C|MSH6_uc010fbj.3_Missense_Mutation_p.S366C|MSH6_uc010yoj.2_Missense_Mutation_p.S366C	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	668					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGTCTGATTCCATTGGGTTG	0.433000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					158			98		0	0	0.014410	0	0
PYGL	5836	broad.mit.edu	37	14	51387749	51387749	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr14:51387749C>T	uc001wyu.3	-	5	824	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	PYGL_uc010tqq.2_Missense_Mutation_p.G199S|PYGL_uc010anz.1_Missense_Mutation_p.G36S	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	233					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	p.P232S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TTCATGTAGCCGGGCACGGGG	0.512000														23			33		0	0	0.004878	0	0
CXCR4	7852	broad.mit.edu	37	2	136873381	136873381	+	Silent	SNP	G	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:136873381G>T	uc002tuz.3	-	1	212	c.117C>A	c.(115-117)atC>atA	p.I39I	CXCR4_uc002tuy.3_Silent_p.I43I|CXCR4_uc010fnk.3_Silent_p.I24I	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	39					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TGGGCAGGAAGATTTTATTGA	0.438000														96			52		1.4374e-25	1.79289e-25	0.014410	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204199641	204199641	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:204199641A>G	uc001hau.3	-	17	2800	c.2483T>C	c.(2482-2484)aTg>aCg	p.M828T		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	828										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTGCCGCCGCATTCGGTCAAT	0.652000														6			3		0	0	0.004672	0	0
CCDC88A	55704	broad.mit.edu	37	2	55566741	55566741	+	Silent	SNP	T	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:55566741T>G	uc002ryv.2	-	12	2219	c.1377A>C	c.(1375-1377)tcA>tcC	p.S459S	CCDC88A_uc010ypa.1_Silent_p.S459S|CCDC88A_uc010yoz.1_Silent_p.S459S|CCDC88A_uc010ypb.1_Silent_p.S361S	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	459					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ATAATCTACTTGATGTCAACT	0.363000														52			23		0	0	0.002780	0	0
ERBB4	2066	broad.mit.edu	37	2	212426810	212426810	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:212426810C>A	uc002veg.1	-	19	2403	c.2305G>T	c.(2305-2307)Gct>Tct	p.A769S	ERBB4_uc002veh.1_Missense_Mutation_p.A769S|ERBB4_uc010zji.1_Missense_Mutation_p.A759S|ERBB4_uc010zjj.1_Missense_Mutation_p.A759S|ERBB4_uc010fut.1_Missense_Mutation_p.A769S	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	769	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATGATCAGAGCTTCCTGTAAG	0.403000										TSP Lung(8;0.080)				55			37		1.69901e-12	2.05297e-12	0.005524	1	0
MUC4	4585	broad.mit.edu	37	3	195507827	195507827	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr3:195507827G>A	uc021xjp.1	-	1	10780	c.10624C>T	c.(10624-10626)Ctt>Ttt	p.L3542F	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	340					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGAGGAAAGGCTGGTGACA	0.617000														0			4		0	0	0.004482	0	0
TTC7B	145567	broad.mit.edu	37	14	91161893	91161893	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr14:91161893C>G	uc001xyp.3	-	5	850	c.728G>C	c.(727-729)aGa>aCa	p.R243T	BC039357_uc001xyr.1_5'Flank	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	243							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GAGAAGCTCTCTAAATCTTCC	0.413000														14			18		0	0	0.010504	0	0
SLC6A4	6532	broad.mit.edu	37	17	28543164	28543164	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr17:28543164G>T	uc002hey.4	-	6	1452	c.908C>A	c.(907-909)cCt>cAt	p.P303H		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	303					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCAGGCTCCAGGGAGGGTGGC	0.522000														65			35		7.63505e-26	9.6268e-26	0.012213	1	0
REXO1	57455	broad.mit.edu	37	19	1821535	1821535	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr19:1821535G>A	uc002lua.4	-	4	2472	c.2377C>T	c.(2377-2379)Cac>Tac	p.H793Y	REXO1_uc010dsq.3_Missense_Mutation_p.H102Y|REXO1_uc010xgs.1_5'UTR|REXO1_uc010dsp.1_5'Flank|LOC100288123_uc002lub.1_5'Flank	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	793						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGGACTGTGGGCGATTCGC	0.642000														93			4		0	0	0.000602	0	0
BIRC6	57448	broad.mit.edu	37	2	32693046	32693046	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:32693046T>C	uc010ezu.3	+	27	5781	c.5647T>C	c.(5647-5649)Tac>Cac	p.Y1883H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1883					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGGTCATACCTACATCTTGCC	0.388000														27			3		0	0	0.004672	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387423	46387423	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr19:46387423G>A	uc002pds.1	-	0	1954	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	537	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGGGCCCTGCGCCTTGATGAA	0.677000														45			7		0	0	0.001984	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342829	94342829	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:94342829A>C	uc001dqf.3	-	1	720	c.662T>G	c.(661-663)aTt>aGt	p.I221S	DNTTIP2_uc010otm.2_Non-coding_Transcript|DNTTIP2_uc009wdo.2_Missense_Mutation_p.I16S	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA.	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCCTGGTACAATCTTACTATC	0.393000														166			90		0	0	0.014410	0	0
PITPNM2	57605	broad.mit.edu	37	12	123479959	123479959	+	Silent	SNP	C	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr12:123479959C>T	uc001uej.1	-	12	2230	c.2031G>A	c.(2029-2031)caG>caA	p.Q677Q	PITPNM2_uc001uek.1_Silent_p.Q677Q	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	677					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCTGGTGCTGCTGGATGGTAT	0.637000														81			38		0	0	0.005524	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33561191	33561191	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr5:33561191G>C	uc003jia.1	-	19	4229	c.4066C>G	c.(4066-4068)Cct>Gct	p.P1356A	ADAMTS12_uc010iuq.1_Missense_Mutation_p.P1271A	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1356	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1356P(1)|p.D1355N(1)|p.D1355Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTTTTTGCAGGGTCAGGTCTC	0.572000										HNSCC(64;0.19)				96			60		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140865325	140865325	+	Silent	SNP	C	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr5:140865325C>G	uc003lky.2	+	0	585	c.585C>G	c.(583-585)ctC>ctG	p.L195L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Silent_p.L195L	NM_018928	NP_061751	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA.	195	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L194L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGCTGCTCCTGGAGAAGC	0.582000														43			23		0	0	0.003330	0	0
SHBG	6462	broad.mit.edu	37	17	7536218	7536218	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr17:7536218C>A	uc002gie.2	+	6	1039	c.1001C>A	c.(1000-1002)gCt>gAt	p.A334D	SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Missense_Mutation_p.A222D|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Missense_Mutation_p.A276D|SHBG_uc010cmz.2_Intron|SHBG_uc010cmv.2_Intron|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Missense_Mutation_p.A276D|SHBG_uc002gid.3_Intron|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Missense_Mutation_p.A316D|SHBG_uc010vuf.1_Intron|SHBG_uc010cnb.2_Intron|SHBG_uc010cnc.2_Intron	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	334	Laminin G-like 2.			A -> L (in Ref. 2; AAC18778).	hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	TTAGGCCTGGCTCCCCTCCTT	0.557000											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			25		3.57733e-08	4.19162e-08	0.009535	1	0
SYNE1	23345	broad.mit.edu	37	6	152658075	152658075	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr6:152658075C>G	uc021zhb.1	-	73	12652	c.12429G>C	c.(12427-12429)tgG>tgC	p.W4143C	SYNE1_uc003qot.4_Missense_Mutation_p.W4072C|SYNE1_uc003qou.4_Missense_Mutation_p.W4143C|SYNE1_uc010kja.2_Missense_Mutation_p.W848C|SYNE1_uc010kiz.3_5'Flank	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4143					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAGGTAAATCCAGAGCTCAG	0.458000										HNSCC(10;0.0054)				46			19		0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9083127	9083127	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr19:9083127C>A	uc002mkp.3	-	0	8892	c.8688G>T	c.(8686-8688)gaG>gaT	p.E2896D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2897	Ser-rich.|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						AACTTGGGACCTCAGAAAACT	0.507000														18			6		0.00116845	0.00129085	0.001168	1	0
MYO10	4651	broad.mit.edu	37	5	16764479	16764479	+	Silent	SNP	G	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr5:16764479G>T	uc003jft.4	-	11	1674	c.1206C>A	c.(1204-1206)gcC>gcA	p.A402A	MYO10_uc010itx.3_Silent_p.A25A	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	402	Myosin head-like.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ACAGAGCCATGGCCAGGGAGT	0.547000														54			37		1.60099e-16	1.97568e-16	0.004878	1	0
ENTPD7	57089	broad.mit.edu	37	10	101460770	101460770	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr10:101460770T>G	uc009xwl.3	+	11	1737	c.1382T>G	c.(1381-1383)tTc>tGc	p.F461C	ENTPD7_uc001kqa.4_Missense_Mutation_p.F459C	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 7 (ENTPD7), mRNA.	459						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ACTCAGAGATTCAAGAATGGC	0.433000														154			78		0	0	0.014410	0	0
AP4E1	23431	broad.mit.edu	37	15	51289917	51289917	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr15:51289917T>A	uc001zyx.2	+	17	2848	c.2741T>A	c.(2740-2742)aTa>aAa	p.I914K	AP4E1_uc021skz.1_Missense_Mutation_p.I839K|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	914					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACTGAATACATACACTCAAAT	0.353000														69			55		0	0	0.014410	0	0
FAM71E1	112703	broad.mit.edu	37	19	50970929	50970929	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr19:50970929G>A	uc002psh.3	-	3	1055	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	FAM71E1_uc002psg.3_Missense_Mutation_p.R217C|FAM71E1_uc002psi.3_Non-coding_Transcript	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	233										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		AAGCGCAGGCGGTAGAGCAGC	0.612000														6			4		0	0	0.009096	0	0
C1orf52	148423	broad.mit.edu	37	1	85725088	85725088	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:85725088T>G	uc001dkv.3	-	0	268	c.229A>C	c.(229-231)Aac>Cac	p.N77H	C1orf52_uc001dkw.3_Non-coding_Transcript|C1orf52_uc001dkx.4_Non-coding_Transcript|C1orf52_uc009wcn.3_Missense_Mutation_p.N77H	NM_198077	NP_932343	Q8N6N3	CA052_HUMAN	Homo sapiens chromosome 1 open reading frame 52 (C1orf52), transcript variant 1, mRNA.	77										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		ATCTGTTTGTTGAGCGGATTG	0.652000											OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			25		0	0	0.004656	0	0
TCRA	0	broad.mit.edu	37	14	22362920	22362920	+	Silent	SNP	A	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr14:22362920A>C	uc021rpj.1	+	1	222	c.51A>C	c.(49-51)ggA>ggC	p.G17G	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		TTGCAGGAGGAACCAGAGCCC	0.478000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			37		0	0	0.005524	0	0
HORMAD1	84072	broad.mit.edu	37	1	150679129	150679129	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr1:150679129T>A	uc001evk.2	-	9	822	c.704A>T	c.(703-705)aAt>aTt	p.N235I	HORMAD1_uc001evl.2_Missense_Mutation_p.N228I|HORMAD1_uc001evm.2_Missense_Mutation_p.N155I	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	235					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGTCAATATTTTCCATTCG	0.343000														121			77		0	0	0.014410	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53708941	53708941	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr16:53708941A>C	uc002ehp.3	-	6	934	c.870T>G	c.(868-870)atT>atG	p.I290M	RPGRIP1L_uc002eho.4_Missense_Mutation_p.I290M|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.I290M|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.I290M|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.I290M|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.I290M	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	290					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CTTGAAGCTGAATAAATTTTC	0.308000														37			30		0	0	0.006320	0	0
GPC5	2262	broad.mit.edu	37	13	92345909	92345909	+	Missense_Mutation	SNP	C	T	T	rs150834424	byFrequency	TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr13:92345909C>T	uc010tif.2	+	2	1160	c.794C>T	c.(793-795)gCg>gTg	p.A265V		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	265						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAAGGCCTGGCGCTCACTAAG	0.547000														62			36		0	0	0.003755	0	0
GTF3C3	9330	broad.mit.edu	37	2	197636546	197636546	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:197636546T>G	uc002uts.3	-	14	2343	c.2186A>C	c.(2185-2187)aAc>aCc	p.N729T	GTF3C3_uc010zgu.2_Missense_Mutation_p.N700T	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	729						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATTTTCTGGGTTTTTCAGCAT	0.423000														99			4		0	0	0.000602	0	0
OR2A14	135941	broad.mit.edu	37	7	143826220	143826220	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr7:143826220G>T	uc011kua.2	+	0	15	c.15G>T	c.(13-15)aaG>aaT	p.K5N		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AAGGCAACAAGACATGGATCA	0.498000														25			22		2.37509e-13	2.90011e-13	0.010504	1	0
SUGP2	10147	broad.mit.edu	37	19	19141834	19141834	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr19:19141834T>G	uc002nkz.1	-	1	109	c.89A>C	c.(88-90)cAa>cCa	p.Q30P	SUGP2_uc002nkx.2_Missense_Mutation_p.Q16P|SUGP2_uc002nla.1_Missense_Mutation_p.Q16P|SUGP2_uc002nlb.2_Missense_Mutation_p.Q16P|SUGP2_uc010xqk.1_5'UTR|ARMC6_uc002nld.3_5'Flank|ARMC6_uc002nlc.3_5'Flank|ARMC6_uc010xql.2_5'Flank	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	16					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGCTTTTTCTTGTAATACAGC	0.393000														166			5		0	0	0.000602	0	0
WDR33	55339	broad.mit.edu	37	2	128484249	128484249	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr2:128484249delT	uc002tpg.2	-	7	1026	c.827delA	c.(826-828)aagfs	p.K276fs		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	276					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGCCCAGTCTTGGGATCCCA	0.468													---	98	---	---	38	---					
POLQ	10721	broad.mit.edu	37	3	121207671	121207673	+	In_Frame_Del	DEL	CTT	-	-			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr3:121207671_121207673delCTT	uc003eee.4	-	15	4234_4236	c.4105_4107delAAG	c.(4105-4107)aagdel	p.K1369del	POLQ_uc003eed.3_In_Frame_Del_p.K541del	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1369					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGTGACACTCCTTCTGAAAAGAG	0.448								DNA polymerases (catalytic subunits)					---	275	---	---	13	---					
SPEF2	79925	broad.mit.edu	37	5	35771741	35771743	+	In_Frame_Del	DEL	GAA	-	-			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr5:35771741_35771743delGAA	uc003jjo.3	+	26	3943_3945	c.3832_3834delGAA	c.(3832-3834)gaadel	p.E1280del	SPEF2_uc003jjp.1_In_Frame_Del_p.E766del|SPEF2_uc003jjr.3_5'Flank	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1280					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGGCTTATGGAAGAAGAAAAAG	0.399													---	46	---	---	12	---					
NAIP	4671	broad.mit.edu	37	5	70406506	70406507	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr5:70406506_70406507delAT	uc003kat.1	-	0	1357_1358	c.91_92delAT	c.(91-93)atgfs	p.M31fs	DQ570835_uc021yai.1_Non-coding_Transcript	NM_022892	NP_075043	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 2, mRNA.	419					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AAGCAAAGACATGTGGCGGAAA	0.500													---	5	---	---	5	---					
TRIM41	90933	broad.mit.edu	37	5	180661231	180661232	+	Frame_Shift_Ins	INS	-	C	C	rs138245799		TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr5:180661231_180661232insC	uc003mne.2	+	5	2086_2087	c.1349_1350insC	c.(1348-1350)cgcfs	p.R450fs	TRIM41_uc003mnc.2_3'UTR|TRIM41_uc003mnd.2_Frame_Shift_Ins_p.R450fs|TRIM41_uc003mnf.2_Non-coding_Transcript|TRIM41_uc003mng.1_Frame_Shift_Ins_p.R30fs	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	450	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCTGACCGCCGGGGGGTCC	0.698													---	65	---	---	38	---					
IFNA2	3440	broad.mit.edu	37	9	21385064	21385067	+	Frame_Shift_Del	DEL	GATT	-	-			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr9:21385064_21385067delGATT	uc003zpb.3	-	0	330_333	c.262_265delAATC	c.(262-267)aatctcfs	p.N88fs		NM_000605	NP_000596	P01563	IFNA2_HUMAN	Homo sapiens interferon, alpha 2 (IFNA2), mRNA.	88					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GTGCTGAAGAGATTGAAGATCTGC	0.490													---	128	---	---	87	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	-	-	rs11279082		TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr9:100616701_100616706delGCCGCC	uc004axu.3	+	0	1165_1170	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473	NP_004464	O00358	FOXE1_HUMAN	Homo sapiens forkhead box E1 (thyroid transcription factor 2) (FOXE1), mRNA.	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													---	8	---	---	4	---					
OTOGL	283310	broad.mit.edu	37	12	80726809	80726813	+	Frame_Shift_Del	DEL	ACATC	-	-			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr12:80726809_80726813delACATC	uc001szd.3	+	36	4352_4356	c.4346_4350delACATC	c.(4345-4350)gacatcfs	p.D1449fs		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACTCCATCAGACATCACTGTGTTTG	0.371													---	20	---	---	7	---					
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103510748	103510748	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr13:103510748delT	uc001vpu.2	+	13	2136	c.2014delT	c.(2014-2016)ttafs	p.L672fs	BIVM-ERCC5_uc010tjb.2_Frame_Shift_Del_p.L218fs|BIVM-ERCC5_uc001vpw.3_Frame_Shift_Del_p.L218fs|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Frame_Shift_Del_p.L50fs	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	643					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										CAGAAGAACATTATTTGAAGC	0.373													---	95	---	---	51	---					
DIDO1	11083	broad.mit.edu	37	20	61537401	61537402	+	Frame_Shift_Ins	INS	-	T	T	rs140153728		TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr20:61537401_61537402insT	uc002ydr.2	-	5	1737_1738	c.1425_1426insA	c.(1423-1428)aaagagfs	p.K475fs	DIDO1_uc002yds.2_Frame_Shift_Ins_p.K475fs|DIDO1_uc002ydt.2_Frame_Shift_Ins_p.K475fs|DIDO1_uc002ydu.2_Frame_Shift_Ins_p.K475fs|DIDO1_uc002ydv.2_Frame_Shift_Ins_p.K475fs|DIDO1_uc002ydw.2_Frame_Shift_Ins_p.K475fs|DIDO1_uc002ydx.2_Frame_Shift_Ins_p.K475fs|DIDO1_uc011aao.1_Frame_Shift_Ins_p.K475fs	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	475					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTGTGGTCTCTTTTTTTTCTG	0.490													---	201	---	---	7	---					
SMARCB1	6598	broad.mit.edu	37	22	24167461	24167461	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chr22:24167461delA	uc002zyd.3	+	6	1079	c.872delA	c.(871-873)gacfs	p.D291fs	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Frame_Shift_Del_p.D282fs|SMARCB1_uc002zyc.3_Frame_Shift_Del_p.D273fs	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	282	2 X approximate tandem repeats.				DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(6)|p.P290fs*6(1)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TTTGAGTGGGACATGTCAGAG	0.537			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							---	18	---	---	57	---					
TDGF1P3	6998	broad.mit.edu	37	X	109764504	109764514	+	RNA	DEL	CAGCATTTGGC	-	-			TCGA-BQ-5876-01A-11D-1589-08	TCGA-BQ-5876-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffc588e2-0513-4495-b578-d028131a1dc3	a1a3e47d-ca70-49d5-8599-c60c433343f0	g.chrX:109764504_109764514delCAGCATTTGGC	uc004eos.1	+	0		c.965_975delCAGCATTTGGC								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		TCAGAGATGACAGCATTTGGCCCCAGGAGGA	0.555													---	8	---	---	26	---					
