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
ERRFI1	54206	broad.mit.edu	37	1	8074343	8074343	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:8074343G>A	uc001aoz.2	-	4	565	c.316C>T	c.(316-318)CAT>TAT	p.H106Y	ERRFI1_uc001apa.1_Missense_Mutation_p.H31Y	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	mitogen-inducible gene 6 protein	106					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			ovary(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TCCTCTTCATGTGGTCCCAAG	0.473000												
EXOSC10	5394	broad.mit.edu	37	1	11140947	11140947	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:11140947G>A	uc001asa.2	-	12	1510	c.1460C>T	c.(1459-1461)ACG>ATG	p.T487M	EXOSC10_uc001asb.2_Missense_Mutation_p.T487M|EXOSC10_uc009vmy.1_Missense_Mutation_p.T487M	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	487					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			upper_aerodigestive_tract(1)	1	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GGACTCATCCGTGAAGATAGG	0.418000												
AADACL4	343066	broad.mit.edu	37	1	12726597	12726597	+	Missense_Mutation	SNP	C	C	T	rs149313289		TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:12726597C>T	uc001auf.2	+	4	1075	c.1075C>T	c.(1075-1077)CGC>TGC	p.R359C		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	359	Lumenal (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTATAAGAAGCGCTTGGAGGA	0.498000												
CELA2A	63036	broad.mit.edu	37	1	15794033	15794033	+	Silent	SNP	G	G	A	rs141124454	byFrequency	TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:15794033G>A	uc001awk.2	+	7	818	c.792G>A	c.(790-792)TCG>TCA	p.S264S		NM_033440	NP_254275	P08217	CEL2A_HUMAN	elastase 2A preproprotein	264	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						GGATCAATTCGGTAAGAACCG	0.602000												
OTUD3	23252	broad.mit.edu	37	1	20234063	20234063	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:20234063G>A	uc001bcs.3	+	8	1140	c.1021G>A	c.(1021-1023)GTC>ATC	p.V341I		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	341											0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTCTCAGGTCACAAACAA	0.567000												
BAI2	576	broad.mit.edu	37	1	32196483	32196483	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:32196483C>T	uc001btn.2	-	29	4652	c.4298G>A	c.(4297-4299)CGC>CAC	p.R1433H	BAI2_uc001btm.2_Missense_Mutation_p.R427H|BAI2_uc001btp.1_Missense_Mutation_p.R427H|BAI2_uc010ogn.1_Missense_Mutation_p.R403H|BAI2_uc010ogo.1_Missense_Mutation_p.R1042H|BAI2_uc010ogp.1_Missense_Mutation_p.R1366H|BAI2_uc010ogq.1_Missense_Mutation_p.R1400H|BAI2_uc001bto.2_Missense_Mutation_p.R1433H	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1433	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGGCACTTGGCGGGCGCTGGG	0.672000												
GBP6	163351	broad.mit.edu	37	1	89845996	89845996	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:89845996G>A	uc001dnf.2	+	6	951	c.677G>A	c.(676-678)CGT>CAT	p.R226H	GBP6_uc010ost.1_Missense_Mutation_p.R96H	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	226							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TGCATCAGGCGTTTCTTTCCA	0.413000												
TCHHL1	126637	broad.mit.edu	37	1	152059398	152059398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:152059398G>A	uc001ezo.1	-	3	825	c.760C>T	c.(760-762)CAG>TAG	p.Q254*		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	254							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTTCCTTCCTGTTCTCCAAAC	0.443000												
OR6K3	391114	broad.mit.edu	37	1	158687131	158687131	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:158687131A>T	uc010pip.1	-	1	823	c.823T>A	c.(823-825)TTG>ATG	p.L275M		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	275	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					CTGAAACGCAAGTACATGAGT	0.463000												
OR6N2	81442	broad.mit.edu	37	1	158746588	158746588	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:158746588C>T	uc010pir.1	-	1	838	c.838G>A	c.(838-840)GTA>ATA	p.V280I		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					GGTGTTAGTACGGAGTAAACT	0.423000												
OR6N2	81442	broad.mit.edu	37	1	158746952	158746952	+	Silent	SNP	A	A	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:158746952A>G	uc010pir.1	-	1	474	c.474T>C	c.(472-474)TCT>TCC	p.S158S		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					GGATGACCTCAGAAATGGGAC	0.498000												
OR6N2	81442	broad.mit.edu	37	1	158747263	158747263	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:158747263G>A	uc010pir.1	-	1	163	c.163C>T	c.(163-165)CTG>TTG	p.L55L		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	55	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					GGTGTGTGCAGAGCTGCATCC	0.458000												
B3GALT2	8707	broad.mit.edu	37	1	193149667	193149667	+	Silent	SNP	T	T	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:193149667T>C	uc001gtc.3	-	2	1741	c.1026A>G	c.(1024-1026)GTA>GTG	p.V342V	CDC73_uc001gtb.2_Intron	NM_003783	NP_003774	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta	342	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1						TCCCTACATATACATCTTCCA	0.413000												
FMN2	56776	broad.mit.edu	37	1	240555839	240555839	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:240555839T>G	uc010pyd.1	+	15	5112	c.4887T>G	c.(4885-4887)AAT>AAG	p.N1629K	FMN2_uc010pye.1_Missense_Mutation_p.N1633K|FMN2_uc010pyf.1_Missense_Mutation_p.N244K|FMN2_uc010pyg.1_Missense_Mutation_p.N225K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1629	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAGGAAAATTCACTGACAG	0.338000												
ADARB2	105	broad.mit.edu	37	10	1405717	1405717	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr10:1405717C>T	uc009xhq.2	-	3	957	c.583G>A	c.(583-585)GCC>ACC	p.A195T		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	195					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCCTGGCAGGCGTTGGGGAAC	0.577000												
GDI2	2665	broad.mit.edu	37	10	5808111	5808111	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr10:5808111A>C	uc001iil.3	-	11	1487	c.1196T>G	c.(1195-1197)TTT>TGT	p.F399C	GDI2_uc001iim.3_Missense_Mutation_p.F354C|GDI2_uc009xid.2_Missense_Mutation_p.F403C	NM_001494	NP_001485	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2 isoform 1	399					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0						GCGGGAAATAAAGATCTGAAA	0.403000												
CUL2	8453	broad.mit.edu	37	10	35300856	35300856	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr10:35300856G>A	uc001ixv.2	-	20	2236	c.2026C>T	c.(2026-2028)CGG>TGG	p.R676W	CUL2_uc009xma.2_Missense_Mutation_p.R545W|CUL2_uc010qer.1_Missense_Mutation_p.R695W|CUL2_uc001ixw.2_Missense_Mutation_p.R676W	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	676					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3						TACATTTTCCGGTCCTCATCA	0.413000												
RBP3	5949	broad.mit.edu	37	10	48390215	48390215	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr10:48390215G>A	uc001jez.2	-	1	777	c.663C>T	c.(661-663)TAC>TAT	p.Y221Y		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	221	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	TGTCGGCACCGTACCTTTCTC	0.622000												
CTNNA3	29119	broad.mit.edu	37	10	68138997	68138997	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr10:68138997G>A	uc009xpn.1	-	12	1768	c.1645C>T	c.(1645-1647)CAC>TAC	p.H549Y	CTNNA3_uc001jmw.2_Missense_Mutation_p.H549Y	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	549					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						GTGACGATGTGAGCAACTCTT	0.483000												
PDDC1	347862	broad.mit.edu	37	11	771346	771346	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr11:771346G>A	uc001lrc.2	-	6	556	c.531C>T	c.(529-531)GGC>GGT	p.G177G	PDDC1_uc010qwm.1_Silent_p.G127G|PDDC1_uc001lrd.2_Silent_p.G177G|PDDC1_uc001lrf.1_3'UTR|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_Silent_p.G127G|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Silent_p.G141G|PDDC1_uc010qwq.1_Silent_p.G91G|PDDC1_uc010qwr.1_Silent_p.G177G|PDDC1_uc010qws.1_Silent_p.G127G	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	177						extracellular region					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAAGCAGGCGCCCGAATCCT	0.701000												
EIF3F	8665	broad.mit.edu	37	11	8009016	8009016	+	Silent	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr11:8009016C>T	uc001mfw.2	+	1	150	c.117C>T	c.(115-117)CCC>CCT	p.P39P	EIF3F_uc010rbj.1_5'UTR	NM_003754	NP_003745	O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3,	39						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(1)	1				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ctccggttcccgctgcggctc	0.338000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC22A11	55867	broad.mit.edu	37	11	64329769	64329769	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr11:64329769C>T	uc001oai.2	+	4	1057	c.683C>T	c.(682-684)GCG>GTG	p.A228V	SLC22A11_uc001oah.1_Silent_p.G193G|SLC22A11_uc001oaj.2_Missense_Mutation_p.A228V|SLC22A11_uc009ypq.2_Missense_Mutation_p.A228V|SLC22A11_uc001oak.1_Missense_Mutation_p.A57V	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	228	Cytoplasmic (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	AGCAGGAGGGCGGTCACCATG	0.682000												
EFEMP2	30008	broad.mit.edu	37	11	65634395	65634395	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr11:65634395G>A	uc001ofy.3	-	11	1520	c.1326C>T	c.(1324-1326)ACC>ACT	p.T442T	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Intron	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	442					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		CTCCTCAGAAGGTGTAGGCCC	0.567000												
FAM181B	220382	broad.mit.edu	37	11	82444684	82444684	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr11:82444684C>T	uc001ozp.2	-	1	223	c.88G>A	c.(88-90)GGA>AGA	p.G30R		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	hypothetical protein LOC220382	30										large_intestine(1)	1						TCCAGGGCTCCGAAGGCGCCC	0.736000												
OR10G9	219870	broad.mit.edu	37	11	123894260	123894260	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr11:123894260C>T	uc010sad.1	+	1	541	c.541C>T	c.(541-543)CCG>TCG	p.P181S		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGTGATGCACCGCCCATCCT	0.532000												
PARP11	57097	broad.mit.edu	37	12	3931156	3931156	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:3931156T>C	uc001qmk.1	-	5	465	c.410A>G	c.(409-411)CAC>CGC	p.H137R	PARP11_uc001qml.2_Missense_Mutation_p.H144R|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.H63R|PARP11_uc001qmn.2_Missense_Mutation_p.H63R	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	137	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			ovary(1)|central_nervous_system(1)	2			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TGTTTGATTGTGCAGAGGAAT	0.348000												
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	rs121913530		TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:25398285C>T	uc001rgp.1	-	2	215	c.34G>A	c.(34-36)GGT>AGT	p.G12S	KRAS_uc001rgq.1_Missense_Mutation_p.G12S|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
C12orf40	283461	broad.mit.edu	37	12	40077228	40077228	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:40077228A>G	uc001rmc.2	+	9	1395	c.1228A>G	c.(1228-1230)AAT>GAT	p.N410D	C12orf40_uc009zjv.1_RNA	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	410										ovary(6)	6						AAAATTTGAAAATGATTACCA	0.289000												
SDR9C7	121214	broad.mit.edu	37	12	57324037	57324037	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:57324037C>T	uc010sqw.1	-	2	533	c.533G>A	c.(532-534)GGC>GAC	p.G178D		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C,	178						cytoplasm	binding|oxidoreductase activity			central_nervous_system(1)	1						GGCCTCAACGCCAAACTTGGA	0.547000												
ZFC3H1	196441	broad.mit.edu	37	12	72036243	72036243	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:72036243C>T	uc001swo.2	-	6	1959	c.1600G>A	c.(1600-1602)GAT>AAT	p.D534N		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	534					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						CTATCTGTATCCATAGCAACT	0.368000												
FGD6	55785	broad.mit.edu	37	12	95502125	95502125	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:95502125C>T	uc001tdp.3	-	11	3487	c.3263G>A	c.(3262-3264)CGG>CAG	p.R1088Q	FGD6_uc009zsx.2_Missense_Mutation_p.R221Q|FGD6_uc001tdq.1_Missense_Mutation_p.R124Q	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1088					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						AATGCTTACCCGACCAGGCTG	0.343000												
C12orf49	79794	broad.mit.edu	37	12	117157596	117157596	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:117157596C>T	uc001tvz.1	-	4	644	c.506G>A	c.(505-507)TGC>TAC	p.C169Y	C12orf49_uc009zwm.1_Missense_Mutation_p.C139Y	NM_024738	NP_079014	Q9H741	CL049_HUMAN	hypothetical protein LOC79794 precursor	169						extracellular region				ovary(1)	1	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		TTTGGCCAGGCACAACTCAAA	0.507000												
TAOK3	51347	broad.mit.edu	37	12	118598020	118598020	+	Silent	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:118598020C>T	uc001twx.2	-	19	2578	c.2283G>A	c.(2281-2283)CAG>CAA	p.Q761Q	TAOK3_uc001twv.2_Silent_p.Q301Q|TAOK3_uc001tww.2_Silent_p.Q591Q|TAOK3_uc001twy.3_Silent_p.Q761Q	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	761	Potential.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTTTCTTGTCTGCTCATCTT	0.413000												
GCN1L1	10985	broad.mit.edu	37	12	120613607	120613607	+	Silent	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:120613607C>T	uc001txo.2	-	11	997	c.984G>A	c.(982-984)CAG>CAA	p.Q328Q		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	328	HEAT 2.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGTCACTGCACTGGCGTGCCA	0.582000												
LRRC43	254050	broad.mit.edu	37	12	122684793	122684793	+	Silent	SNP	C	C	T	rs141017122	by1000genomes	TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:122684793C>T	uc009zxm.2	+	8	1432	c.1407C>T	c.(1405-1407)TAC>TAT	p.Y469Y	LRRC43_uc001ubw.3_Silent_p.Y284Y|LRRC43_uc009zxn.2_Silent_p.Y230Y	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	469											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTGCAGTTACGAGATGCAGC	0.652000												
ULK1	8408	broad.mit.edu	37	12	132403121	132403121	+	Silent	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr12:132403121C>T	uc001uje.2	+	23	2674	c.2406C>T	c.(2404-2406)CTC>CTT	p.L802L		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	802					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCCCTGAGCTCCCTGCTCCAG	0.697000												
SACS	26278	broad.mit.edu	37	13	23905259	23905259	+	Silent	SNP	A	A	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr13:23905259A>G	uc001uon.2	-	10	13345	c.12756T>C	c.(12754-12756)TCT>TCC	p.S4252S	SACS_uc001uoo.2_Silent_p.S4105S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4252					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.T4252S(1)		ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCCTGCTTTGAGAGCTTTCCT	0.433000												
MTUS2	23281	broad.mit.edu	37	13	29855958	29855958	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr13:29855958G>A	uc001usl.3	+	4	2850	c.2792G>A	c.(2791-2793)CGC>CAC	p.R931H		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	921	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						ACAGCACCCCGCAGGAGTTTA	0.572000												
TNFSF11	8600	broad.mit.edu	37	13	43175104	43175104	+	Silent	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr13:43175104C>T	uc001uyu.2	+	4	668	c.519C>T	c.(517-519)ACC>ACT	p.T173T	TNFSF11_uc001uyt.2_Silent_p.T100T	NM_003701	NP_003692	O14788	TNF11_HUMAN	tumor necrosis factor ligand superfamily, member	173	Extracellular (Potential).				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding				0		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TTAATGCCACCGACATCCCAT	0.433000												
AP1G2	8906	broad.mit.edu	37	14	24033828	24033828	+	Silent	SNP	C	C	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr14:24033828C>A	uc001wkl.2	-	9	1201	c.864G>T	c.(862-864)GCG>GCT	p.A288A	AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Silent_p.A216A|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_Intron|AP1G2_uc001wkp.1_RNA|AP1G2_uc010tnp.1_Silent_p.A288A	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	288					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CAAACAGGACCGCATTTCCGG	0.547000												
SPATA7	55812	broad.mit.edu	37	14	88904415	88904415	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr14:88904415G>T	uc001xwq.2	+	12	1600	c.1449G>T	c.(1447-1449)GAG>GAT	p.E483D	SPATA7_uc001xwr.2_Missense_Mutation_p.E451D|SPATA7_uc001xws.2_Missense_Mutation_p.E419D|SPATA7_uc001xwt.2_Missense_Mutation_p.E377D|SPATA7_uc001xwu.2_Intron	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	483					response to stimulus|visual perception					ovary(1)	1						ATGAGAACGAGATATTCCCTT	0.338000												
GPR68	8111	broad.mit.edu	37	14	91700984	91700984	+	Silent	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr14:91700984C>T	uc001xzg.2	-	2	752	c.411G>A	c.(409-411)GCG>GCA	p.A137A	GPR68_uc001xzh.2_Silent_p.A147A	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	137	Helical; Name=4; (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CGCCGACGGCCGCCTTCAGGG	0.627000												
SLC24A4	123041	broad.mit.edu	37	14	92949146	92949146	+	Missense_Mutation	SNP	G	G	A	rs138016047		TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr14:92949146G>A	uc001yak.2	+	13	1351	c.1327G>A	c.(1327-1329)GCC>ACC	p.A443T	SLC24A4_uc001yai.2_Missense_Mutation_p.A396T|SLC24A4_uc010twm.1_Missense_Mutation_p.A441T|SLC24A4_uc001yaj.2_Missense_Mutation_p.A424T|SLC24A4_uc010auj.2_Missense_Mutation_p.A332T|SLC24A4_uc010twn.1_Missense_Mutation_p.A216T|SLC24A4_uc001yan.2_Missense_Mutation_p.A154T	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	460	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CTTCATCACCGCCACGCTGTG	0.522000												
PPP2R5C	5527	broad.mit.edu	37	14	102349794	102349794	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr14:102349794A>T	uc001yko.2	+	5	664	c.524A>T	c.(523-525)GAT>GTT	p.D175V	PPP2R5C_uc010txr.1_Missense_Mutation_p.D206V|PPP2R5C_uc001ykk.2_Missense_Mutation_p.D230V|PPP2R5C_uc010txt.1_Missense_Mutation_p.D165V|PPP2R5C_uc001ykn.2_Missense_Mutation_p.D175V|PPP2R5C_uc001ykp.2_Missense_Mutation_p.D175V|PPP2R5C_uc001ykq.2_Missense_Mutation_p.D73V|uc001ykr.1_5'Flank	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	175					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						GACAGTGAAGATCCTCGGGAG	0.388000												
RYR3	6263	broad.mit.edu	37	15	34072507	34072507	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr15:34072507C>T	uc001zhi.2	+	65	9303	c.9233C>T	c.(9232-9234)TCG>TTG	p.S3078L	RYR3_uc010bar.2_Missense_Mutation_p.S3078L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3078					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AATCCACTCTCGGTCTTCAAC	0.557000												
PML	5371	broad.mit.edu	37	15	74315474	74315474	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr15:74315474C>T	uc002awv.2	+	3	1048	c.908C>T	c.(907-909)GCG>GTG	p.A303V	PML_uc002awm.2_Missense_Mutation_p.A303V|PML_uc002awl.2_Missense_Mutation_p.A303V|PML_uc002awj.1_Missense_Mutation_p.A303V|PML_uc002awk.2_Missense_Mutation_p.A303V|PML_uc002awn.2_Missense_Mutation_p.A303V|PML_uc002awo.2_Missense_Mutation_p.A303V|PML_uc002awp.2_Missense_Mutation_p.A303V|PML_uc002awq.2_Missense_Mutation_p.A303V|PML_uc002awr.2_Missense_Mutation_p.A303V|PML_uc002aws.2_Missense_Mutation_p.A303V|PML_uc002awt.2_Missense_Mutation_p.A303V|PML_uc002awu.2_Missense_Mutation_p.A303V|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.A218V|PML_uc002awx.2_Missense_Mutation_p.A61V|PML_uc002awy.2_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	303					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						GCTGTGGACGCGCGGTACCAG	0.716000			T	RARA|PAX5	APL|ALL							
ADAMTS17	170691	broad.mit.edu	37	15	100657064	100657064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr15:100657064C>T	uc002bvv.1	-	13	1955	c.1876G>A	c.(1876-1878)GTG>ATG	p.V626M	ADAMTS17_uc002bvx.1_Missense_Mutation_p.V383M	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	626	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TCAACCACCACGGCTGTCAGC	0.612000												
ADAMTS17	170691	broad.mit.edu	37	15	100695514	100695514	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr15:100695514T>G	uc002bvv.1	-	9	1272	c.1193A>C	c.(1192-1194)AAC>ACC	p.N398T	ADAMTS17_uc002bvx.1_Missense_Mutation_p.N155T	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	398	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ATCGTCGTGGTTCATGCCCAA	0.537000												
TMEM8A	58986	broad.mit.edu	37	16	426761	426761	+	Silent	SNP	G	G	A	rs146605667	byFrequency	TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr16:426761G>A	uc002cgu.3	-	5	816	c.687C>T	c.(685-687)TGC>TGT	p.C229C	TMEM8A_uc002cgv.3_Silent_p.C36C	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	229	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						CATTGGACACGCAGTCCCGCA	0.662000												
SMG1	23049	broad.mit.edu	37	16	18827647	18827647	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr16:18827647G>A	uc002dfm.2	-	58	10642	c.10279C>T	c.(10279-10281)CAT>TAT	p.H3427Y	SMG1_uc010bwb.2_Missense_Mutation_p.H3287Y|SMG1_uc010bwa.2_Missense_Mutation_p.H2158Y	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	3427					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			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TTCAAGAGATGTTTGACATCT	0.358000												
ACSM2A	123876	broad.mit.edu	37	16	20497994	20497994	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr16:20497994G>A	uc010bwe.2	+	15	1967	c.1728G>A	c.(1726-1728)GCG>GCA	p.A576A	ACSM2A_uc002dhf.3_Silent_p.A576A|ACSM2A_uc002dhg.3_Silent_p.A576A|ACSM2A_uc010vay.1_Silent_p.A497A|ACSM2A_uc002dhh.3_Silent_p.A206A|uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	576					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						AAGCCCGTGCGCAGTGAGACA	0.453000												
SLC5A11	115584	broad.mit.edu	37	16	24922747	24922747	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr16:24922747G>A	uc002dmu.2	+	16	2153	c.1921G>A	c.(1921-1923)GCC>ACC	p.A641T	SLC5A11_uc002dms.2_Missense_Mutation_p.A577T|SLC5A11_uc010vcd.1_Missense_Mutation_p.A606T|SLC5A11_uc002dmt.2_Missense_Mutation_p.A485T|SLC5A11_uc010vce.1_Missense_Mutation_p.A571T|SLC5A11_uc010bxt.2_Missense_Mutation_p.A577T|SLC5A11_uc002dmv.2_Missense_Mutation_p.A264T	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	641	Cytoplasmic (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)		CAGAGCAGAAGCCATCATAGT	0.532000												
NFAT5	10725	broad.mit.edu	37	16	69727007	69727007	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr16:69727007A>C	uc002exm.1	+	12	4433	c.3225A>C	c.(3223-3225)CAA>CAC	p.Q1075H	NFAT5_uc002exi.2_Missense_Mutation_p.Q999H|NFAT5_uc002exj.1_Missense_Mutation_p.Q999H|NFAT5_uc002exk.1_Missense_Mutation_p.Q999H|NFAT5_uc002exl.1_Missense_Mutation_p.Q1093H|NFAT5_uc002exn.1_Missense_Mutation_p.Q1092H|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1075					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TTCATCCTCAAAATCCTATTG	0.418000												
SUPT6H	6830	broad.mit.edu	37	17	27024707	27024707	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr17:27024707C>G	uc002hby.2	+	31	4369	c.4279C>G	c.(4279-4281)CTG>GTG	p.L1427V	SUPT6H_uc010crt.2_Missense_Mutation_p.L1427V	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1427	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CCGGGACCTTCTGAATCACAA	0.522000												
PPM1D	8493	broad.mit.edu	37	17	58701061	58701061	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr17:58701061A>G	uc002iyt.1	+	2	874	c.652A>G	c.(652-654)AAG>GAG	p.K218E	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	218	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACAGGACCATAAGCCAGAACT	0.463000												
SCN4A	6329	broad.mit.edu	37	17	62018998	62018998	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr17:62018998G>A	uc002jds.1	-	24	4721	c.4644C>T	c.(4642-4644)AGC>AGT	p.S1548S		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1548	IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CTGGGGGCCCGCTGTTGAGGA	0.597000												
EMILIN2	84034	broad.mit.edu	37	18	2891281	2891281	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr18:2891281C>T	uc002kln.2	+	4	1315	c.1156C>T	c.(1156-1158)CGG>TGG	p.R386W		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	386	Potential.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)		CCTCCGAGCCCGGCTACAGGA	0.488000												
EPB41L3	23136	broad.mit.edu	37	18	5397280	5397280	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr18:5397280G>A	uc002kmt.1	-	18	2704	c.2618C>T	c.(2617-2619)TCG>TTG	p.S873L	EPB41L3_uc010wzh.1_Missense_Mutation_p.S704L|EPB41L3_uc002kmu.1_Missense_Mutation_p.S651L|EPB41L3_uc010dkq.1_Missense_Mutation_p.S542L|EPB41L3_uc002kms.1_Missense_Mutation_p.S108L|EPB41L3_uc010wze.1_Missense_Mutation_p.S178L|EPB41L3_uc010wzf.1_Missense_Mutation_p.S170L|EPB41L3_uc010wzg.1_Missense_Mutation_p.S145L|EPB41L3_uc010dkr.2_Missense_Mutation_p.S265L	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	873	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GTCTCCCGCCGAGTAAGAAGC	0.622000												
RNF152	220441	broad.mit.edu	37	18	59483133	59483133	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr18:59483133G>A	uc002lih.1	-	2	976	c.564C>T	c.(562-564)CAC>CAT	p.H188H		NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152	188					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)				AAGACATGTTGTGAAGCACGA	0.562000												
TSHZ1	10194	broad.mit.edu	37	18	72997563	72997563	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr18:72997563G>A	uc002lly.2	+	2	629	c.66G>A	c.(64-66)GCG>GCA	p.A22A		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	67	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCAGCTCTGCGACTAACCAGG	0.557000												
C19orf26	255057	broad.mit.edu	37	19	1231232	1231232	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr19:1231232C>G	uc002lrm.2	-	9	1279	c.1004G>C	c.(1003-1005)AGT>ACT	p.S335T		NM_152769	NP_689982	Q8N350	DOS_HUMAN	downstream of Stk11	361						integral to membrane					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CGTGCTCTCACTGGCTGCCCG	0.706000										HNSCC(14;0.022)		
CPAMD8	27151	broad.mit.edu	37	19	17068679	17068679	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr19:17068679G>A	uc002nfb.2	-	19	2433	c.2401C>T	c.(2401-2403)CAT>TAT	p.H801Y		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	754						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TTGAGACAATGCCAAATCCAT	0.403000												
NCAN	1463	broad.mit.edu	37	19	19359647	19359647	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr19:19359647G>A	uc002nlz.2	+	14	3875	c.3776G>A	c.(3775-3777)CGG>CAG	p.R1259Q	NCAN_uc002nma.2_Missense_Mutation_p.G15R	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1259	Sushi.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			ATTCGATGCCGGAGCAATGGC	0.502000												
ATP4A	495	broad.mit.edu	37	19	36051409	36051409	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr19:36051409G>A	uc002oal.1	-	6	672	c.643C>T	c.(643-645)CGC>TGC	p.R215C	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	215	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCCAGGATGCGGATGTCGGCG	0.627000												
CYP2S1	29785	broad.mit.edu	37	19	41712326	41712326	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr19:41712326A>G	uc002opw.2	+	9	1503	c.1448A>G	c.(1447-1449)AAC>AGC	p.N483S	CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Missense_Mutation_p.N208S	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,	483					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			skin(1)	1						GGCCTTTTCAACATTCCCCCA	0.602000												
PSG3	5671	broad.mit.edu	37	19	43233295	43233295	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr19:43233295G>T	uc002oue.2	-	5	1355	c.1223C>A	c.(1222-1224)TCC>TAC	p.S408Y	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Missense_Mutation_p.S408Y|PSG3_uc010eil.2_Missense_Mutation_p.S430Y	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	408	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				GACTGTCATGGATTTGGAGCT	0.463000												
SLC8A2	6543	broad.mit.edu	37	19	47933453	47933453	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr19:47933453C>T	uc002pgx.2	-	10	2937	c.2659G>A	c.(2659-2661)GGC>AGC	p.G887S	SLC8A2_uc010xyq.1_Missense_Mutation_p.G643S|SLC8A2_uc010xyr.1_Missense_Mutation_p.G350S|SLC8A2_uc010ele.2_Missense_Mutation_p.R913Q	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	887	Extracellular (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGCGCGGGCCGCCCAGCTCG	0.701000												
NT5C1B	93034	broad.mit.edu	37	2	18766140	18766140	+	Silent	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:18766140C>T	uc002rcz.2	-	5	647	c.543G>A	c.(541-543)GCG>GCA	p.A181A	NT5C1B_uc002rcy.2_Silent_p.A181A|NT5C1B_uc010exr.2_Silent_p.A123A|NT5C1B_uc010yju.1_Silent_p.A121A|NT5C1B_uc002rda.2_Silent_p.A121A|NT5C1B_uc010yjv.1_Silent_p.A198A|NT5C1B_uc010yjw.1_Silent_p.A164A|NT5C1B_uc010exs.2_Silent_p.A183A|NT5C1B_uc002rdb.1_5'UTR	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	181	Pro-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCTGGGGCGACGCGGGTGGCT	0.716000												
SLC5A6	8884	broad.mit.edu	37	2	27427688	27427688	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:27427688G>A	uc002rjd.2	-	8	1237	c.846C>T	c.(844-846)CTC>CTT	p.L282L	SLC5A6_uc010eyv.1_Silent_p.L282L	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	282					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	TGCGGGAACTGAGGTACCGCT	0.597000												
BIRC6	57448	broad.mit.edu	37	2	32670603	32670603	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:32670603T>C	uc010ezu.2	+	21	4485	c.4351T>C	c.(4351-4353)TAT>CAT	p.Y1451H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1451					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGTCTATTGGTATTTTGTCTT	0.348000												
FAM98A	25940	broad.mit.edu	37	2	33810313	33810313	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:33810313G>A	uc002rpa.1	-	8	1161	c.1087C>T	c.(1087-1089)CGT>TGT	p.R363C	FAM98A_uc010yne.1_Missense_Mutation_p.R168C|FAM98A_uc010ynd.1_Missense_Mutation_p.R194C|FAM98A_uc002roz.1_Missense_Mutation_p.R201C	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	hypothetical protein LOC25940	364	Gly-rich.									ovary(1)	1	all_hematologic(175;0.115)					TAGCCACCACGTCCACCTCTC	0.587000												
SLC4A5	57835	broad.mit.edu	37	2	74460534	74460534	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:74460534G>T	uc002sko.1	-	18	2592	c.2590C>A	c.(2590-2592)CTG>ATG	p.L864M	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.L864M|SLC4A5_uc010ffc.1_Missense_Mutation_p.L864M|SLC4A5_uc002skp.1_Missense_Mutation_p.L762M|SLC4A5_uc002sks.1_Missense_Mutation_p.L826M	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	864	Extracellular (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						CTTACCTTCAGTTTGTTCTCC	0.512000												
SMYD1	150572	broad.mit.edu	37	2	88405935	88405935	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:88405935C>T	uc002ssr.2	+	8	1075	c.1073C>T	c.(1072-1074)TCG>TTG	p.S358L	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.S54L	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						AGCATTGTTTCGGAGGTCCTT	0.522000												
THSD7B	80731	broad.mit.edu	37	2	137928482	137928482	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:137928482T>C	uc002tva.1	+	6	1604	c.1604T>C	c.(1603-1605)CTG>CCG	p.L535P	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.L425P	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATCGTATTCTGAAGGCCGTC	0.493000												
GALNT13	114805	broad.mit.edu	37	2	155295200	155295200	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:155295200C>A	uc002tyr.3	+	12	2059	c.1492C>A	c.(1492-1494)CAT>AAT	p.H498N	GALNT13_uc002tyt.3_Missense_Mutation_p.H498N|GALNT13_uc010fod.2_Missense_Mutation_p.P230Q|uc002tyu.1_Intron	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	498	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AAAATGCCACCATATGAGAGG	0.338000												
XIRP2	129446	broad.mit.edu	37	2	167760210	167760210	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:167760210C>T	uc002udx.2	+	1	236	c.218C>T	c.(217-219)TCG>TTG	p.S73L	XIRP2_uc010fpn.2_Missense_Mutation_p.S73L|XIRP2_uc010fpo.2_Missense_Mutation_p.S73L|XIRP2_uc010fpp.2_Missense_Mutation_p.S73L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						ATGTGGAGTTCGAAGCCGGAA	0.522000												
OSBPL6	114880	broad.mit.edu	37	2	179247234	179247234	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:179247234A>C	uc002ulx.2	+	16	1999	c.1621A>C	c.(1621-1623)ATC>CTC	p.I541L	OSBPL6_uc002ulw.2_Missense_Mutation_p.S474R|OSBPL6_uc002uly.2_Missense_Mutation_p.I566L|OSBPL6_uc010zfe.1_Missense_Mutation_p.I510L|OSBPL6_uc002ulz.2_Missense_Mutation_p.I505L|OSBPL6_uc002uma.2_Missense_Mutation_p.I545L	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	541					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCTCGGCAAAGTATGCATCA	0.448000												
TTN	7273	broad.mit.edu	37	2	179585348	179585348	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:179585348A>G	uc010zfg.1	-	77	19633	c.19409T>C	c.(19408-19410)CTT>CCT	p.L6470P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L3131P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7397							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAACCTTTAAGAGCTCCTAC	0.393000												
ERBB4	2066	broad.mit.edu	37	2	212522548	212522548	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:212522548T>G	uc002veg.1	-	16	1975	c.1877A>C	c.(1876-1878)AAC>ACC	p.N626T	ERBB4_uc002veh.1_Missense_Mutation_p.N626T|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron|ERBB4_uc010fut.1_Missense_Mutation_p.N626T	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	626	Extracellular (Potential).|Cys-rich.				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			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		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)		AGTGGGACCGTTACACCTGCA	0.473000										TSP Lung(8;0.080)		
PID1	55022	broad.mit.edu	37	2	229890648	229890648	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr2:229890648T>A	uc002vpr.3	-	3	491	c.453A>T	c.(451-453)AAA>AAT	p.K151N	PID1_uc002vps.3_Missense_Mutation_p.K149N|PID1_uc002vpt.3_Missense_Mutation_p.K118N|PID1_uc002vpu.3_Missense_Mutation_p.K69N	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	151	PID.					cytoplasm				breast(3)|skin(1)	4		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGGCCTCCCCTTTGTGGTCGA	0.587000												
SNPH	9751	broad.mit.edu	37	20	1277819	1277819	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:1277819T>A	uc002wes.2	+	4	317	c.81T>A	c.(79-81)GAT>GAA	p.D27E	SNPH_uc002wet.2_Missense_Mutation_p.D71E	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	27					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						GCGTGCGGGATGCCTACGGCA	0.637000												
C20orf194	25943	broad.mit.edu	37	20	3262288	3262288	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:3262288T>A	uc002wii.2	-	28	2662	c.2611A>T	c.(2611-2613)AGA>TGA	p.R871*	C20orf194_uc002wij.3_Nonsense_Mutation_p.R610*|C20orf194_uc002wik.2_Nonsense_Mutation_p.R545*	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	871											0						TGTATCTACCTGTGCTCCATG	0.488000												
MAVS	57506	broad.mit.edu	37	20	3846340	3846340	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:3846340C>G	uc002wjw.3	+	7	1338	c.1169C>G	c.(1168-1170)GCA>GGA	p.A390G	MAVS_uc002wjx.3_Missense_Mutation_p.A249G|MAVS_uc002wjy.3_Missense_Mutation_p.A88G	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	390	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						GAGACCCCAGCAGCTCCAACA	0.637000												
KIF16B	55614	broad.mit.edu	37	20	16359862	16359862	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:16359862C>T	uc002wpg.1	-	19	2943	c.2785G>A	c.(2785-2787)GAA>AAA	p.E929K	KIF16B_uc002wpe.1_Missense_Mutation_p.E311K|KIF16B_uc002wpf.1_Missense_Mutation_p.E311K|KIF16B_uc010gch.1_Missense_Mutation_p.E929K|KIF16B_uc010gci.1_Missense_Mutation_p.E929K|KIF16B_uc010gcj.1_Missense_Mutation_p.E940K	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	929	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TCAAGAATTTCAAATGCTCTC	0.438000												
CST8	10047	broad.mit.edu	37	20	23472384	23472384	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:23472384A>G	uc002wth.1	+	2	437	c.80A>G	c.(79-81)AAT>AGT	p.N27S		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	27						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CCAAAAAAGAATGAGACAGGG	0.537000												
C20orf114	92747	broad.mit.edu	37	20	31889103	31889103	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:31889103C>T	uc002wyw.1	+	9	973	c.812C>T	c.(811-813)ACA>ATA	p.T271I	C20orf114_uc002wyx.1_5'Flank	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	LPLUNC1 protein precursor	271						extracellular space	lipid binding			central_nervous_system(2)|skin(2)	4						GCTTCCCTGACAATGCCCACC	0.522000												
TGIF2	60436	broad.mit.edu	37	20	35207182	35207182	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:35207182C>T	uc002xfn.2	+	2	178	c.5C>T	c.(4-6)TCG>TTG	p.S2L	C20orf24_uc002xfo.2_Missense_Mutation_p.S2L	NM_021809	NP_068581	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	2						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)|skin(1)	2	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGCACCATGTCGGACAGTGAT	0.597000												
SLC32A1	140679	broad.mit.edu	37	20	37357184	37357184	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:37357184G>A	uc002xjc.2	+	2	1743	c.1480G>A	c.(1480-1482)GTC>ATC	p.V494I		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	494	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCTTCGACGTCGCCATCTT	0.647000												
RBM38	55544	broad.mit.edu	37	20	55982810	55982810	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:55982810G>A	uc010zzj.1	+	4	803	c.628G>A	c.(628-630)GCC>ACC	p.A210T	RBM38_uc010zzk.1_3'UTR	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	RNA-binding region containing protein 1 isoform	210					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|cytosol|nucleus|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding				0	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CTACCCTGCCGCCGTGCCCCA	0.697000												
COL9A3	1299	broad.mit.edu	37	20	61468510	61468510	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr20:61468510G>C	uc002ydm.2	+	30	1682	c.1679G>C	c.(1678-1680)GGC>GCC	p.G560A	COL9A3_uc002ydn.2_Missense_Mutation_p.G54A	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	560	Triple-helical region 2 (COL2).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					GGTCCAGCTGGCCCCCCTGGG	0.672000												
FBLN1	2192	broad.mit.edu	37	22	45937242	45937242	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr22:45937242G>A	uc003bgj.1	+	9	1203	c.1056G>A	c.(1054-1056)ACG>ACA	p.T352T	FBLN1_uc003bgg.1_Silent_p.T352T|FBLN1_uc003bgh.2_Silent_p.T352T|FBLN1_uc010gzz.2_Silent_p.T390T|FBLN1_uc003bgi.1_Silent_p.T352T	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	352	EGF-like 4; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGGAGGGAACGCGCTGTGTTG	0.527000												
MIOX	55586	broad.mit.edu	37	22	50927478	50927478	+	Missense_Mutation	SNP	G	G	A	rs146378961		TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr22:50927478G>A	uc003bll.1	+	6	532	c.418G>A	c.(418-420)GTC>ATC	p.V140I	MIOX_uc003blm.1_Missense_Mutation_p.V140I|MIOX_uc003bln.1_Silent_p.S150S	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	140					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity				0		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGGCTGTCGTCGGCGACAC	0.657000												
TMEM40	55287	broad.mit.edu	37	3	12778267	12778267	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr3:12778267G>A	uc003bxg.1	-	9	667	c.540C>T	c.(538-540)TAC>TAT	p.Y180Y	TMEM40_uc003bxh.1_Silent_p.Y150Y|TMEM40_uc003bxi.1_Silent_p.Y104Y|TMEM40_uc011auv.1_Silent_p.Y196Y	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	180	Helical; (Potential).					integral to membrane					0						CCTCACCTGCGTAATAGTGAT	0.592000												
C3orf20	84077	broad.mit.edu	37	3	14770029	14770029	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr3:14770029C>T	uc003byy.2	+	12	2178	c.1774C>T	c.(1774-1776)CGG>TGG	p.R592W	C3orf20_uc003byz.2_Missense_Mutation_p.R470W|C3orf20_uc003bza.2_Missense_Mutation_p.R470W|C3orf20_uc003bzb.1_Missense_Mutation_p.R93W	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	592						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						TCATCCCGAGCGGCTCCCCAA	0.453000												
ANO10	55129	broad.mit.edu	37	3	43408442	43408442	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr3:43408442G>C	uc003cmv.2	-	13	2110	c.1939C>G	c.(1939-1941)CTG>GTG	p.L647V	ANO10_uc011azs.1_3'UTR|ANO10_uc003cmw.2_Missense_Mutation_p.L581V|ANO10_uc010hil.2_Missense_Mutation_p.L457V|ANO10_uc011azt.1_Missense_Mutation_p.L536V	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	647	Cytoplasmic (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2						TCCTCCTTCAGGTTCTCGGTC	0.572000												
ROBO2	6092	broad.mit.edu	37	3	77657047	77657047	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr3:77657047G>A	uc003dpy.3	+	21	3878	c.3235G>A	c.(3235-3237)GTC>ATC	p.V1079I	ROBO2_uc003dpz.2_Missense_Mutation_p.V1083I|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V1083I|ROBO2_uc003dqa.2_Missense_Mutation_p.V206I	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1079	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCCCCCCAGTCCAGCCCCT	0.458000												
UROC1	131669	broad.mit.edu	37	3	126224579	126224579	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr3:126224579C>T	uc003eiz.1	-	8	810	c.778G>A	c.(778-780)GCA>ACA	p.A260T	UROC1_uc010hsi.1_Missense_Mutation_p.A260T	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	260					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		ACGATGACTGCGGCCTTGGCC	0.458000												
DHX36	170506	broad.mit.edu	37	3	154013119	154013119	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr3:154013119A>T	uc003ezy.3	-	13	1640	c.1559T>A	c.(1558-1560)TTA>TAA	p.L520*	DHX36_uc010hvq.2_Intron|DHX36_uc003ezz.3_Nonsense_Mutation_p.L520*	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	520	Nuclear localization signal.|Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGGTATAATTAAAAATTTATC	0.299000												
KCNMB2	10242	broad.mit.edu	37	3	178560469	178560469	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr3:178560469A>T	uc003fjd.2	+	5	795	c.452A>T	c.(451-453)AAT>ATT	p.N151I	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.N151I|KCNMB2_uc003fjf.2_Missense_Mutation_p.N151I|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	151	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(1)	1	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TGTGGAAAAAATTTTGAAGAA	0.398000												
DRD5	1816	broad.mit.edu	37	4	9783718	9783718	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr4:9783718C>T	uc003gmb.3	+	1	461	c.65C>T	c.(64-66)GCG>GTG	p.A22V		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	22	Extracellular (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAGCAGCTGGCGCAGGGGAAC	0.706000												
GNPDA2	132789	broad.mit.edu	37	4	44720403	44720403	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr4:44720403T>C	uc003gwy.2	-	3	306	c.149A>G	c.(148-150)AAA>AGA	p.K50R	GNPDA2_uc010iga.2_Intron|GNPDA2_uc011bzb.1_5'UTR|GNPDA2_uc003gwz.1_Missense_Mutation_p.K50R	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	50					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			ovary(1)	1						TATTAGTTTTTTATAGCATCC	0.244000												
TRAM1L1	133022	broad.mit.edu	37	4	118005573	118005573	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr4:118005573T>C	uc003ibv.3	-	1	1164	c.977A>G	c.(976-978)GAT>GGT	p.D326G		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	326	Cytoplasmic (Potential).|TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1						AATATTAGAATCTTCTACCCA	0.418000												
FAT4	79633	broad.mit.edu	37	4	126240675	126240675	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr4:126240675G>A	uc003ifj.3	+	1	3109	c.3109G>A	c.(3109-3111)GAA>AAA	p.E1037K		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1037	Cadherin 10.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CACCATTGCTGAAGGAAATAC	0.388000												
MAP9	79884	broad.mit.edu	37	4	156277001	156277001	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr4:156277001G>A	uc003ios.2	-	9	1421	c.1157C>T	c.(1156-1158)TCT>TTT	p.S386F	MAP9_uc011cin.1_Missense_Mutation_p.S361F|MAP9_uc010iqa.1_Intron|MAP9_uc003iot.1_Missense_Mutation_p.S385F	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	386					cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCTCCTTTTAGAACTAGATTT	0.348000												
IRX2	153572	broad.mit.edu	37	5	2748985	2748985	+	Silent	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:2748985C>T	uc003jda.2	-	3	1079	c.837G>A	c.(835-837)CCG>CCA	p.P279P	IRX2_uc003jdb.2_Silent_p.P279P	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	279						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CGGGCTTGGGCGGCGCCAGGC	0.607000												
ADAMTS16	170690	broad.mit.edu	37	5	5237162	5237162	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:5237162A>C	uc003jdl.2	+	14	2242	c.2104A>C	c.(2104-2106)ACT>CCT	p.T702P	ADAMTS16_uc003jdk.1_Missense_Mutation_p.T702P|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	702	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CAAAGATGGGACTCCATGCTC	0.303000												
NNT	23530	broad.mit.edu	37	5	43609403	43609403	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:43609403T>G	uc003joe.2	+	2	361	c.106T>G	c.(106-108)TTT>GTT	p.F36V	NNT_uc003jof.2_Missense_Mutation_p.F36V	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	36					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	TTTACGAACATTTTATACTCA	0.403000												
ITGA1	3672	broad.mit.edu	37	5	52145263	52145263	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:52145263G>A	uc003jou.2	+	2	178	c.126G>A	c.(124-126)CCG>CCA	p.P42P	ITGA1_uc003jov.2_RNA	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	42	Extracellular (Potential).|FG-GAP 1.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TCAGCGGCCCGGTGGAAGACA	0.358000												
PDE8B	8622	broad.mit.edu	37	5	76717658	76717658	+	Missense_Mutation	SNP	G	G	A	rs116027371	by1000genomes	TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:76717658G>A	uc003kfa.2	+	20	2308	c.2263G>A	c.(2263-2265)GAC>AAC	p.D755N	PDE8B_uc003kfb.2_Missense_Mutation_p.D735N|PDE8B_uc003kfc.2_Missense_Mutation_p.D700N|PDE8B_uc003kfd.2_Missense_Mutation_p.D708N|PDE8B_uc003kfe.2_Missense_Mutation_p.D658N	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	755	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TGAAGGCAGCGACTGTGAATG	0.507000												
SLCO4C1	353189	broad.mit.edu	37	5	101597686	101597686	+	Silent	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:101597686C>T	uc003knm.2	-	5	1238	c.951G>A	c.(949-951)GGG>GGA	p.G317G		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	317	Helical; Name=6; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATAGAAGAAACCCAATCCACC	0.373000												
SPOCK1	6695	broad.mit.edu	37	5	136324212	136324212	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:136324212T>A	uc003lbo.2	-	7	1018	c.827A>T	c.(826-828)AAG>ATG	p.K276M	SPOCK1_uc003lbp.2_Missense_Mutation_p.K276M	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	276					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCTCGTACTTATCCAGGTA	0.493000												
PCDHB3	56132	broad.mit.edu	37	5	140481830	140481830	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:140481830G>A	uc003lio.2	+	1	1597	c.1597G>A	c.(1597-1599)GCC>ACC	p.A533T	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	533	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGTGGGCGCCACAGACCG	0.667000												
PCDHGA8	9708	broad.mit.edu	37	5	140774731	140774731	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:140774731G>T	uc003lkd.1	+	1	3249	c.2351G>T	c.(2350-2352)GGC>GTC	p.G784V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.G784V|PCDHGB5_uc011daw.1_5'Flank|PCDHGB5_uc003lkf.1_5'Flank	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	784	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCAGGAGGGCTGTGAGAAA	0.458000												
ADRB2	154	broad.mit.edu	37	5	148206648	148206648	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:148206648C>A	uc003lpr.1	+	1	493	c.254C>A	c.(253-255)GCA>GAA	p.A85E	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	85	Helical; Name=2.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	ATGGGCCTGGCAGTGGTGCCC	0.532000												
ARSI	340075	broad.mit.edu	37	5	149677830	149677830	+	Silent	SNP	G	G	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:149677830G>T	uc003lrv.2	-	2	1246	c.657C>A	c.(655-657)ATC>ATA	p.I219I		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	219						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTGGCCAGGATATGGCTGG	0.632000												
SOX30	11063	broad.mit.edu	37	5	157073789	157073789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:157073789G>A	uc003lxb.1	-	3	1585	c.1243C>T	c.(1243-1245)CGA>TGA	p.R415*	SOX30_uc003lxc.1_Nonsense_Mutation_p.R415*|SOX30_uc011dds.1_Nonsense_Mutation_p.R110*	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	415					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAGGGAATCGTTTTCGCTTC	0.368000												
HIST1H3A	8350	broad.mit.edu	37	6	26021060	26021060	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:26021060G>T	uc003nfp.1	+	1	343	c.343G>T	c.(343-345)GCC>TCC	p.A115S	HIST1H4A_uc003nfq.2_5'Flank	NM_003529	NP_003520	P68431	H31_HUMAN	histone cluster 1, H3a	115					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)|pancreas(1)	2						CGCCATCCACGCCAAGCGCGT	0.602000												
BTN2A2	10385	broad.mit.edu	37	6	26388520	26388520	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:26388520C>T	uc003nhq.2	+	4	808	c.722C>T	c.(721-723)CCA>CTA	p.P241L	BTN2A2_uc011dkf.1_Missense_Mutation_p.P125L|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Missense_Mutation_p.P125L|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.P241L|BTN2A2_uc003nht.2_Missense_Mutation_p.P241L|BTN2A2_uc011dki.1_5'Flank	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	241	Extracellular (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						ATTTTTATTCCAGGTTAGTTC	0.522000												
BTN3A1	11119	broad.mit.edu	37	6	26413839	26413839	+	Silent	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:26413839C>T	uc003nhv.2	+	10	1829	c.1461C>T	c.(1459-1461)GAC>GAT	p.D487D	BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Silent_p.D435D|BTN3A1_uc010jqj.2_3'UTR	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	487	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CTTTCCTGGACGTCTCCTTCT	0.468000												
HIST1H2BJ	8970	broad.mit.edu	37	6	27100278	27100278	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:27100278G>A	uc003niv.2	-	1	298	c.252C>T	c.(250-252)TAC>TAT	p.Y84Y	HIST1H2BJ_uc003niu.1_Intron|HIST1H2AG_uc003niw.2_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	histone cluster 1, H2bj	84					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						AGCGCTTGTTGTAATGCGCCA	0.602000												
HIST1H2AL	8332	broad.mit.edu	37	6	27833333	27833333	+	Silent	SNP	G	G	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:27833333G>T	uc003njw.2	+	1	227	c.201G>T	c.(199-201)GCG>GCT	p.A67A		NM_003511	NP_003502	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	67					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						TGGAGCTGGCGGGCAACGCCG	0.667000												
HLA-G	3135	broad.mit.edu	37	6	29795926	29795926	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:29795926G>A	uc003nnw.2	+	3	354	c.176G>A	c.(175-177)CGG>CAG	p.R59Q	HLA-G_uc011dmb.1_Missense_Mutation_p.R31Q|HLA-G_uc003raj.3_Missense_Mutation_p.R64Q|HLA-G_uc003nnz.3_Missense_Mutation_p.R59Q|HLA-G_uc010jrn.2_Missense_Mutation_p.R59Q|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	59	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			ovary(3)|central_nervous_system(1)	4						CAGTTCGTGCGGTTCGACAGC	0.682000												
BAT3	7917	broad.mit.edu	37	6	31611880	31611880	+	Silent	SNP	C	C	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:31611880C>G	uc003nvg.3	-	12	1871	c.1557G>C	c.(1555-1557)GGG>GGC	p.G519G	BAT3_uc003nvf.3_Silent_p.G513G|BAT3_uc003nvh.3_Silent_p.G513G|BAT3_uc003nvi.3_Silent_p.G513G|BAT3_uc011dnw.1_Silent_p.G513G|BAT3_uc011dnx.1_Silent_p.G513G	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	519	Pro-rich.|4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						AGACTGGGGGCCCTCCAGGAT	0.637000												
CFB	629	broad.mit.edu	37	6	31914819	31914819	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:31914819G>A	uc003nyj.3	+	3	612	c.334G>A	c.(334-336)GGG>AGG	p.G112R	CFB_uc011dor.1_Missense_Mutation_p.G614R|CFB_uc011dos.1_3'UTR|CFB_uc003nyi.2_Missense_Mutation_p.G112R	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	112	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1						CTTCGAGAACGGGGAATACTG	0.532000												
TNXB	7148	broad.mit.edu	37	6	32065659	32065659	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:32065659C>T	uc003nzl.2	-	2	519	c.317G>A	c.(316-318)CGT>CAT	p.R106H	TNXB_uc010jts.1_Missense_Mutation_p.R105H|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	106					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						GATCTCTAGACGGACCCTCAG	0.617000												
DNAH8	1769	broad.mit.edu	37	6	38816548	38816548	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:38816548G>A	uc003ooe.1	+	35	5119	c.4519G>A	c.(4519-4521)GGT>AGT	p.G1507S		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CGTCTTTGTAGGTGGAGATAT	0.368000												
FHL5	9457	broad.mit.edu	37	6	97052643	97052643	+	Silent	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:97052643C>T	uc003pos.1	+	4	582	c.177C>T	c.(175-177)GAC>GAT	p.D59D	FHL5_uc003pot.1_Silent_p.D59D	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	59	LIM zinc-binding 1.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GTTACAAAGACCGGCACTGGC	0.433000												
ROS1	6098	broad.mit.edu	37	6	117632202	117632202	+	Missense_Mutation	SNP	G	G	A	rs139881304		TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:117632202G>A	uc003pxp.1	-	39	6413	c.6214C>T	c.(6214-6216)CGG>TGG	p.R2072W	ROS1_uc011ebi.1_RNA	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	2072	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAATGCATCCGTTCCAAGTAG	0.383000			T	GOPC|ROS1	glioblastoma|NSCLC							
IFNGR1	3459	broad.mit.edu	37	6	137525611	137525611	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:137525611C>T	uc003qho.2	-	4	507	c.404G>A	c.(403-405)AGA>AAA	p.R135K	IFNGR1_uc011edm.1_Missense_Mutation_p.R107K|IFNGR1_uc011edn.1_Missense_Mutation_p.R125K	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	135	Extracellular (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTCCTCCTTTCTGATATCCAG	0.388000												
CARD11	84433	broad.mit.edu	37	7	2962952	2962952	+	Silent	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:2962952C>T	uc003smv.2	-	16	2360	c.1956G>A	c.(1954-1956)TCG>TCA	p.S652S		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	652					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGAGGTGACCGAAGGCCGGA	0.647000			Mis		DLBCL							
DGKB	1607	broad.mit.edu	37	7	14378334	14378334	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:14378334C>T	uc003ssz.2	-	22	2118	c.1931G>A	c.(1930-1932)TGT>TAT	p.C644Y	DGKB_uc011jxt.1_Missense_Mutation_p.C625Y|DGKB_uc003sta.2_Missense_Mutation_p.C644Y|DGKB_uc011jxu.1_Missense_Mutation_p.C643Y	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	644					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	TACTCCATCACACTGATCGGT	0.338000												
AVL9	23080	broad.mit.edu	37	7	32598846	32598846	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:32598846A>C	uc003tcv.1	+	10	1131	c.985A>C	c.(985-987)AGT>CGT	p.S329R	AVL9_uc011kai.1_Missense_Mutation_p.S329R|AVL9_uc010kwj.1_Missense_Mutation_p.S170R	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	329						integral to membrane					0						TTCTTCAGAAAGTGACTGGGA	0.458000												
URGCP	55665	broad.mit.edu	37	7	43918102	43918102	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:43918102G>A	uc003tiw.2	-	6	1017	c.960C>T	c.(958-960)AGC>AGT	p.S320S	URGCP_uc003tiu.2_Silent_p.S277S|URGCP_uc003tiv.2_Silent_p.S245S|URGCP_uc003tix.2_Silent_p.S311S|URGCP_uc003tiy.2_Silent_p.S277S|URGCP_uc003tiz.2_Silent_p.S277S|URGCP_uc011kbj.1_Silent_p.S277S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	320					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						CCTCCCTTCCGCTGGGAAAAA	0.527000												
ELN	2006	broad.mit.edu	37	7	73466278	73466278	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:73466278C>T	uc003tzw.2	+	17	1005	c.914C>T	c.(913-915)GCA>GTA	p.A305V	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Missense_Mutation_p.A274V|ELN_uc003tzn.2_Missense_Mutation_p.A305V|ELN_uc003tzz.2_Missense_Mutation_p.A269V|ELN_uc003tzo.2_Missense_Mutation_p.A291V|ELN_uc003tzp.2_Missense_Mutation_p.A261V|ELN_uc003tzq.2_Missense_Mutation_p.A188V|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Missense_Mutation_p.A305V|ELN_uc003tzt.2_Missense_Mutation_p.A310V|ELN_uc003tzu.2_Missense_Mutation_p.A310V|ELN_uc003tzv.2_Missense_Mutation_p.A295V|ELN_uc003tzx.2_Missense_Mutation_p.A295V|ELN_uc011kff.1_Missense_Mutation_p.A305V|ELN_uc003tzy.2_Missense_Mutation_p.A300V	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	305	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GCTGCAGCTGCAGCTGCAGCA	0.647000			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome				OREG0018112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CLIP2	7461	broad.mit.edu	37	7	73753054	73753054	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:73753054C>T	uc003uam.2	+	3	725	c.398C>T	c.(397-399)CCG>CTG	p.P133L	CLIP2_uc003uan.2_Missense_Mutation_p.P133L	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	133	CAP-Gly 1.					microtubule associated complex				skin(3)	3						TTCGAGTGCCCGGCCCTCCAG	0.706000												
GNAT3	346562	broad.mit.edu	37	7	80108223	80108223	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:80108223C>T	uc011kgu.1	-	4	395	c.395G>A	c.(394-396)AGA>AAA	p.R132K	CD36_uc003uhc.2_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	132					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						TCCTGGATCTCTCCACAGCCG	0.453000												
HGF	3082	broad.mit.edu	37	7	81346652	81346652	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:81346652T>A	uc003uhl.2	-	11	1466	c.1301A>T	c.(1300-1302)AAG>ATG	p.K434M	HGF_uc003uhm.2_Missense_Mutation_p.K429M	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	434	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						CTCATTCAGCTTACTTGCATC	0.428000												
RUNDC3B	154661	broad.mit.edu	37	7	87329803	87329803	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:87329803G>A	uc003ujb.2	+	4	767	c.356G>A	c.(355-357)CGG>CAG	p.R119Q	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.R102Q|RUNDC3B_uc011khe.1_Missense_Mutation_p.R102Q|RUNDC3B_uc003ujc.2_Missense_Mutation_p.R102Q|RUNDC3B_uc003ujd.2_Missense_Mutation_p.R24Q	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	119	RUN.									skin(1)	1	Esophageal squamous(14;0.00164)					GTGGCTTGCCGGAAAGTTTCA	0.378000												
SAMD9L	219285	broad.mit.edu	37	7	92760776	92760776	+	Silent	SNP	T	T	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:92760776T>A	uc003umh.1	-	5	5725	c.4509A>T	c.(4507-4509)ACA>ACT	p.T1503T	SAMD9L_uc003umj.1_Silent_p.T1503T|SAMD9L_uc003umi.1_Silent_p.T1503T|SAMD9L_uc010lfb.1_Silent_p.T1503T|SAMD9L_uc003umk.1_Silent_p.T1503T|SAMD9L_uc010lfc.1_Silent_p.T1503T|SAMD9L_uc010lfd.1_Silent_p.T1503T|SAMD9L_uc011khx.1_3'UTR	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1503										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGGGAATTTGTATTTTGTG	0.438000												
PPP1R3A	5506	broad.mit.edu	37	7	113522369	113522369	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:113522369T>G	uc010ljy.1	-	2	820	c.789A>C	c.(787-789)GAA>GAC	p.E263D		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	263					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						CTGATGATTCTTCTTTACTGT	0.279000												
PTN	5764	broad.mit.edu	37	7	136938369	136938369	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:136938369T>G	uc003vtq.2	-	3	494	c.131A>C	c.(130-132)AAG>ACG	p.K44T	PTN_uc010lmx.2_Missense_Mutation_p.K44T|PTN_uc003vtr.1_Missense_Mutation_p.K44T	NM_002825	NP_002816	P21246	PTN_HUMAN	pleiotrophin	44					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			upper_aerodigestive_tract(1)|pancreas(1)	2						ACAGTCAGACTTCTTCACTTT	0.453000												
TAS2R4	50832	broad.mit.edu	37	7	141478666	141478666	+	Silent	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:141478666C>T	uc003vwq.1	+	1	378	c.378C>T	c.(376-378)TCC>TCT	p.S126S		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	126	Cytoplasmic (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		GGAATATCTCCCCAAAGATCC	0.488000												
SSPO	23145	broad.mit.edu	37	7	149485454	149485454	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:149485454C>T	uc010lpk.2	+	27	3860	c.3860C>T	c.(3859-3861)ACG>ATG	p.T1287M		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1287	TIL 3.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTGGCCCCACGTGTCCCCCC	0.642000												
DPP6	1804	broad.mit.edu	37	7	154585896	154585896	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:154585896C>T	uc003wlk.2	+	11	1373	c.1244C>T	c.(1243-1245)ACG>ATG	p.T415M	DPP6_uc003wli.2_Missense_Mutation_p.T351M|DPP6_uc003wlm.2_Missense_Mutation_p.T353M|DPP6_uc011kvq.1_Missense_Mutation_p.T308M	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	415	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GACGCCACCACGGGGGTCTGC	0.662000												
RNF32	140545	broad.mit.edu	37	7	156468398	156468398	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr7:156468398A>C	uc003wmo.2	+	8	875	c.693A>C	c.(691-693)GAA>GAC	p.E231D	RNF32_uc010lqm.2_Missense_Mutation_p.E231D|RNF32_uc003wmq.2_Missense_Mutation_p.E231D|RNF32_uc003wmr.2_Missense_Mutation_p.E231D|RNF32_uc003wmu.2_RNA	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	ring finger protein 32	231						aggresome|endosome	protein binding|zinc ion binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGTTCACAGAAATCAGCCACC	0.522000												
TNKS	8658	broad.mit.edu	37	8	9622234	9622234	+	Silent	SNP	T	T	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:9622234T>C	uc003wss.2	+	23	3386	c.3381T>C	c.(3379-3381)AGT>AGC	p.S1127S	TNKS_uc011kww.1_Silent_p.S890S	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1127	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		AGATGCAAAGTACTATTCGAG	0.318000												
XPO7	23039	broad.mit.edu	37	8	21837641	21837641	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:21837641T>G	uc003xaa.3	+	9	986	c.884T>G	c.(883-885)TTT>TGT	p.F295C	XPO7_uc010lti.2_Missense_Mutation_p.F304C|XPO7_uc010ltk.2_Missense_Mutation_p.F296C	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	295				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGATCCCTGTTTAACAATGCA	0.398000												
NUDT18	79873	broad.mit.edu	37	8	21965689	21965689	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:21965689G>A	uc003xaq.1	-	5	450	c.331C>T	c.(331-333)CGG>TGG	p.R111W	NUDT18_uc003xar.1_3'UTR	NM_024815	NP_079091	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety	111	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding				0				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		GAGGGGCCCCGCTCCTCCACG	0.672000												
POLR3D	661	broad.mit.edu	37	8	22105684	22105684	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:22105684G>A	uc003xbl.2	+	5	462	c.379G>A	c.(379-381)GTG>ATG	p.V127M	POLR3D_uc003xbm.2_Missense_Mutation_p.V127M|POLR3D_uc011kze.1_Intron	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	127					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GGATAAGACAGTGGATGTGTC	0.453000												
NEFM	4741	broad.mit.edu	37	8	24772237	24772237	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:24772237C>T	uc003xed.3	+	1	964	c.931C>T	c.(931-933)CGC>TGC	p.R311C	NEFM_uc011lac.1_Missense_Mutation_p.R311C|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'Flank	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	311	Rod.|Coil 2B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGAGGCCATCCGCTCCGCCAA	0.627000												
GGH	8836	broad.mit.edu	37	8	63942754	63942754	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:63942754A>T	uc003xuw.2	-	3	530	c.247T>A	c.(247-249)TAT>AAT	p.Y83N		NM_003878	NP_003869	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase precursor	83	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity				0	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	AGTATTTCATAGTCTTTCTCT	0.313000												
TTPA	7274	broad.mit.edu	37	8	63978606	63978606	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:63978606G>A	uc003xux.1	-	3	441	c.409C>T	c.(409-411)CTA>TTA	p.L137L		NM_000370	NP_000361	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	137	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding				0	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GATGTGATTAGACTTACTCGA	0.373000												
C8orf34	116328	broad.mit.edu	37	8	69728144	69728144	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:69728144G>A	uc010lyz.2	+	13	1364	c.1315G>A	c.(1315-1317)GTT>ATT	p.V439I	C8orf34_uc003xyb.2_Missense_Mutation_p.V414I	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	439					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTTCTTTGCGTTCCATGCTC	0.448000												
GDAP1	54332	broad.mit.edu	37	8	75263617	75263617	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:75263617G>T	uc003yah.2	+	2	305	c.226G>T	c.(226-228)GAA>TAA	p.E76*	GDAP1_uc011lfj.1_Intron|GDAP1_uc003yai.2_Nonsense_Mutation_p.E8*	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	ganglioside-induced differentiation-associated	76	GST N-terminal.					cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CTCAACTGGAGAAGTGCCTGT	0.438000												
ZFHX4	79776	broad.mit.edu	37	8	77763887	77763887	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:77763887C>A	uc003yav.2	+	10	4982	c.4595C>A	c.(4594-4596)TCC>TAC	p.S1532Y	ZFHX4_uc003yau.1_Missense_Mutation_p.S1577Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1532Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1532						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGGAAGCCTCCAGTCCTGTC	0.418000										HNSCC(33;0.089)		
GDF6	392255	broad.mit.edu	37	8	97156922	97156922	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:97156922C>T	uc003yhp.2	-	2	1337	c.1237G>A	c.(1237-1239)GGC>AGC	p.G413S		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	413					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GGGGTGGAGCCGGGGTCCATG	0.597000												
SPAG1	6674	broad.mit.edu	37	8	101195650	101195650	+	Silent	SNP	C	C	T	rs74597335	by1000genomes	TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:101195650C>T	uc003yjh.1	+	5	560	c.474C>T	c.(472-474)TAC>TAT	p.Y158Y	SPAG1_uc003yjg.1_Silent_p.Y158Y|SPAG1_uc003yji.1_Silent_p.Y158Y	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	158					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		CAAGGGATTACGCGGAATGGG	0.239000												
CSMD3	114788	broad.mit.edu	37	8	113353899	113353899	+	Silent	SNP	A	A	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr8:113353899A>G	uc003ynu.2	-	42	6618	c.6459T>C	c.(6457-6459)TTT>TTC	p.F2153F	CSMD3_uc003yns.2_Silent_p.F1355F|CSMD3_uc003ynt.2_Silent_p.F2113F|CSMD3_uc011lhx.1_Silent_p.F2049F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2153	Extracellular (Potential).|CUB 12.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AAAAATTTACAAACTGGAGAT	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
MPDZ	8777	broad.mit.edu	37	9	13119520	13119520	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr9:13119520G>A	uc010mia.1	-	38	5417	c.5360C>T	c.(5359-5361)GCG>GTG	p.A1787V	MPDZ_uc003zkx.3_Missense_Mutation_p.A52V|MPDZ_uc003zky.3_Missense_Mutation_p.A321V|MPDZ_uc010mib.2_Missense_Mutation_p.A492V|MPDZ_uc010mhx.2_Missense_Mutation_p.A609V|MPDZ_uc011lmm.1_Missense_Mutation_p.A646V|MPDZ_uc003zkz.3_Missense_Mutation_p.A480V|MPDZ_uc010mhy.2_Missense_Mutation_p.A1787V|MPDZ_uc010mhz.2_Missense_Mutation_p.A1754V|MPDZ_uc011lmn.1_Missense_Mutation_p.A1754V|MPDZ_uc003zlb.3_Missense_Mutation_p.A1787V	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1787	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		AGCGGCAACCGCTTCTTGGGT	0.388000												
CEP78	84131	broad.mit.edu	37	9	80851395	80851395	+	Silent	SNP	G	G	A			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr9:80851395G>A	uc004akx.2	+	1	405	c.129G>A	c.(127-129)CTG>CTA	p.L43L	CEP78_uc004aky.3_Silent_p.L43L|CEP78_uc010mpp.2_Silent_p.L43L|CEP78_uc011lsp.1_5'UTR	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa isoform b	43					G2/M transition of mitotic cell cycle	centrosome|cytosol				ovary(1)	1						AGGGCGTGCTGGATTTCAACG	0.647000												
FOXE1	2304	broad.mit.edu	37	9	100616626	100616626	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr9:100616626C>T	uc004axu.2	+	1	1090	c.430C>T	c.(430-432)CGC>TGC	p.R144C		NM_004473	NP_004464	O00358	FOXE1_HUMAN	forkhead box E1	144	Fork-head.				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				0		Acute lymphoblastic leukemia(62;0.158)				CAGCTTCCTGCGCCGCCGCAA	0.562000												
TGFBR1	7046	broad.mit.edu	37	9	101907101	101907101	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr9:101907101T>C	uc004azc.2	+	6	1137	c.1061T>C	c.(1060-1062)CTG>CCG	p.L354P	TGFBR1_uc004azd.2_Missense_Mutation_p.L277P|TGFBR1_uc011lvc.1_Missense_Mutation_p.L285P	NM_004612	NP_004603	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor I	354	Protein kinase.|Cytoplasmic (Potential).				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(62;0.0559)				GACTTAGGACTGGCAGTAAGA	0.358000												
TLR4	7099	broad.mit.edu	37	9	120475713	120475713	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr9:120475713A>G	uc004bjz.2	+	3	1598	c.1307A>G	c.(1306-1308)CAA>CGA	p.Q436R	TLR4_uc004bka.2_Missense_Mutation_p.Q396R|TLR4_uc004bkb.2_Missense_Mutation_p.Q236R	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	436	LRR 13.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						AATTTGAAACAAATGAGTGAG	0.373000												
MXRA5	25878	broad.mit.edu	37	X	3235214	3235214	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chrX:3235214C>T	uc004crg.3	-	6	6665	c.6508G>A	c.(6508-6510)GCC>ACC	p.A2170T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2170	Ig-like C2-type 6.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCCCCGAGGCGCTGCAGTCC	0.662000												
NLGN4X	57502	broad.mit.edu	37	X	5821835	5821835	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chrX:5821835T>G	uc010ndh.2	-	5	1385	c.884A>C	c.(883-885)AAG>ACG	p.K295T	NLGN4X_uc004crp.2_Missense_Mutation_p.K315T|NLGN4X_uc004crq.2_Missense_Mutation_p.K295T|NLGN4X_uc010ndi.2_Missense_Mutation_p.K332T|NLGN4X_uc004crr.2_Missense_Mutation_p.K295T|NLGN4X_uc010ndj.2_Missense_Mutation_p.K295T	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	295	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						CCGAGTGTACTTGGCCGGCTG	0.552000												
WNK3	65267	broad.mit.edu	37	X	54328235	54328235	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chrX:54328235C>T	uc004dtd.1	-	6	1586	c.1147G>A	c.(1147-1149)GAA>AAA	p.E383K	WNK3_uc004dtc.1_Missense_Mutation_p.E383K	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	383	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						ATACATCCTTCAATGATTTCT	0.358000												
PHKA1	5255	broad.mit.edu	37	X	71864212	71864212	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chrX:71864212C>T	uc004eax.3	-	14	1760	c.1459G>A	c.(1459-1461)GGA>AGA	p.G487R	PHKA1_uc004eay.3_Missense_Mutation_p.G487R|PHKA1_uc011mqi.1_Missense_Mutation_p.G487R	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	487					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					ATCTCCTTACCTAGGCTGGAA	0.408000												
FGF13	2258	broad.mit.edu	37	X	137717619	137717619	+	Silent	SNP	T	T	C			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chrX:137717619T>C	uc004fam.2	-	4	1262	c.600A>G	c.(598-600)AAA>AAG	p.K200K	FGF13_uc004fan.2_Silent_p.K147K|FGF13_uc011mwi.1_Silent_p.K181K|FGF13_uc004faq.2_Silent_p.K210K|FGF13_uc004far.2_Silent_p.K181K|FGF13_uc011mwj.1_Silent_p.K210K|FGF13_uc011mwk.1_Silent_p.K154K	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	200					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CAAATGTACCTTTCAGTGGTT	0.303000												
FMR1	2332	broad.mit.edu	37	X	147011748	147011748	+	Silent	SNP	T	T	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chrX:147011748T>G	uc010nst.2	+	7	804	c.615T>G	c.(613-615)GCT>GCG	p.A205A	FMR1_uc011mwz.1_Silent_p.A205A|FMR1_uc004fcj.2_Silent_p.A205A|FMR1_uc004fck.3_Silent_p.A205A|FMR1_uc004fcl.3_Silent_p.A66A|FMR1_uc011mxa.1_5'UTR	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	205					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAAGAAGCTAGTAAGCAGC	0.443000									Fragile_X_syndrome			
ARHGAP5	394	broad.mit.edu	37	14	32561145	32561149	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr14:32561145_32561149delGAGAA	uc001wrl.2	+	2	1509_1513	c.1270_1274delGAGAA	c.(1270-1275)GAGAAGfs	p.E424fs	ARHGAP5_uc001wrm.2_Frame_Shift_Del_p.E424fs|ARHGAP5_uc001wrn.2_Frame_Shift_Del_p.E424fs|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	424_425					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TCTGATATCCGAGAAGAGGAGGGTG	0.390												
TP53	7157	broad.mit.edu	37	17	7579381	7579381	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr17:7579381delG	uc002gim.2	-	4	500	c.306delC	c.(304-306)ACCfs	p.T102fs	TP53_uc002gig.1_Frame_Shift_Del_p.T102fs|TP53_uc002gih.2_Frame_Shift_Del_p.T102fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.T102fs|TP53_uc010cni.1_Frame_Shift_Del_p.T102fs|TP53_uc002gij.2_Frame_Shift_Del_p.T102fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.T63fs|TP53_uc010cnk.1_Frame_Shift_Del_p.T117fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	102	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		T -> I (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.T102I(7)|p.T102fs*21(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCCCTGGTAGGTTTTCTGGG	0.637		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
SVEP1	79987	broad.mit.edu	37	9	113194198	113194199	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr9:113194198_113194199delCA	uc010mtz.2	-	32	5686_5687	c.5349_5350delTG	c.(5347-5352)TGTGCAfs	p.C1783fs	SVEP1_uc010mty.2_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1783_1784	EGF-like 7; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TGGTTACCTGCACAGTTTTTCC	0.361												
PIK3R3	8503	broad.mit.edu	37	1	46509408	46509410	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr1:46509407_46509409CGTT>C	uc010olw.2	-	9	1477_1479	c.1460_1462AACG>G	c.(1459-1464)aacgac>aGac	p.487_488ND>R	PIK3R3_uc001cpb.4_In_Frame_Del_p.441_442ND>R|PIK3R3_uc009vyb.3_In_Frame_Del_p.382_383ND>R|PIK3R3_uc009vyc.3_In_Frame_Del_p.458_459ND>R|PIK3R3_uc001cpc.4_In_Frame_Del_p.441_442ND>R|PIK3R3_uc010olv.2_In_Frame_Del_p.231_232ND>R	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	441					T cell costimulation|insulin receptor signaling pathway|platelet activation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TTGAGGGAGTCGTTGTGCTGAAC	0.527												
PTGER4	5734	broad.mit.edu	37	5	40692448	40692465	+	In_Frame_Del	DEL	GAAACACTGAACTTATCA	GAAACACTGAACTTATCA	-			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr5:40692447_40692464TGAAACACTGAACTTATCA>T	uc003jlz.3	+	2	2026_2043	c.1434_1451TGAAACACTGAACTTATCA>T	c.(1432-1452)agtgaaacactgaacttatca>agTa	p.478_484SETLNLS>S		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	478					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CATTTCCCAGTGAAACACTGAACTTATCAGAAAAATGT	0.468												
REV3L	5980	broad.mit.edu	37	6	111693904	111693905	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8679-01A-11D-2394-08	TCGA-BR-8679-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1ffdcc-e1d7-4573-a7ac-d6f6923324cc	2505360b-a523-4f55-adc3-50439aec8beb	g.chr6:111693903_111693904T>TG	uc003puy.4	-	12	5995_5996	c.5654_5655A>CA	c.(5653-5655)ccafs	p.P1885fs	REV3L_uc003pux.4_Frame_Shift_Ins_p.P1807fs|REV3L_uc003puz.4_Frame_Shift_Ins_p.P1807fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1885	Mediates interaction with MAD2L2.				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)				
