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
CCDC27	148870	broad.mit.edu	37	1	3679856	3679856	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:3679856G>T	uc001akv.2	+	7	1220	c.1139G>T	c.(1138-1140)AGG>ATG	p.R380M		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	380	Glu-rich.			R -> K (in Ref. 1; BAB71462).						skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		gaaggggacagggatgaggac	0.388000												
CELA3A	10136	broad.mit.edu	37	1	22336257	22336257	+	Silent	SNP	T	T	C	rs111718190	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:22336257T>C	uc001bfl.2	+	7	721	c.702T>C	c.(700-702)GGT>GGC	p.G234G		NM_005747	NP_005738	P09093	CEL3A_HUMAN	elastase 3A, pancreatic preproprotein	234	Peptidase S1.				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity			haematopoietic_and_lymphoid_tissue(1)	1						AGGTCCACGGTGTGACCAGCT	0.587000												
ANKRD13C	81573	broad.mit.edu	37	1	70790597	70790597	+	Silent	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:70790597C>T	uc001dex.3	-	3	842	c.516G>A	c.(514-516)GTG>GTA	p.V172V	ANKRD13C_uc009wbk.2_Intron	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	172	ANK 2.				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding				0						GAGCATTTTTCACCTTGACTG	0.373000												
AMPD1	270	broad.mit.edu	37	1	115218607	115218607	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:115218607T>G	uc001efe.1	-	11	1490	c.1406A>C	c.(1405-1407)AAG>ACG	p.K469T	AMPD1_uc001eff.1_Missense_Mutation_p.K465T	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	469					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAGGAAATTCTTGGAACGGAA	0.433000												
PPIAL4G	644591	broad.mit.edu	37	1	143767596	143767596	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:143767596C>A	uc001ejt.2	-	1	286	c.253G>T	c.(253-255)GAT>TAT	p.D85Y		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like	85	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity				0						AGGTTCTCATCATCAAATTTC	0.468000												
OR6K3	391114	broad.mit.edu	37	1	158687659	158687659	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:158687659A>G	uc010pip.1	-	1	295	c.295T>C	c.(295-297)TCC>CCC	p.S99P		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	99	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)					ATGAGGTTGGAGAGCATCTTG	0.453000												
CRP	1401	broad.mit.edu	37	1	159683371	159683371	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:159683371C>T	uc001ftw.2	-	2	723	c.619G>A	c.(619-621)GCA>ACA	p.A207T	CRP_uc001ftx.1_Missense_Mutation_p.A74T|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	207	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TACTTCAGTGCCCGCCAGTTC	0.527000												
CRP	1401	broad.mit.edu	37	1	159683427	159683427	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:159683427T>C	uc001ftw.2	-	2	667	c.563A>G	c.(562-564)GAG>GGG	p.E188G	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	188	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GGTGTTAATCTCATCTGGTGA	0.517000												
VANGL2	57216	broad.mit.edu	37	1	160385857	160385857	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:160385857G>A	uc001fwb.1	+	4	376	c.77G>A	c.(76-78)CGC>CAC	p.R26H	VANGL2_uc001fwc.1_Missense_Mutation_p.R26H	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	26	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGCAGGGACCGCCGGGACCGA	0.637000												
TNNI1	7135	broad.mit.edu	37	1	201380567	201380567	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:201380567C>G	uc010ppq.1	-	7	467	c.374G>C	c.(373-375)CGG>CCG	p.R125P	TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Missense_Mutation_p.R104P	NM_003281	NP_003272	P19237	TNNI1_HUMAN	troponin I, skeletal, slow	125					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding				0						CAGCAGGGCCCGGAGCATGGC	0.592000												
GREM2	64388	broad.mit.edu	37	1	240656388	240656388	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:240656388A>C	uc001hys.2	-	2	668	c.388T>G	c.(388-390)TCC>GCC	p.S130A		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	130	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			ACGAGGACGGAGGTGACGCGC	0.622000												
OR2M2	391194	broad.mit.edu	37	1	248344005	248344005	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:248344005A>T	uc010pzf.1	+	1	718	c.718A>T	c.(718-720)ACC>TCC	p.T240S		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCTTTCACGACCTGTTCCTC	0.488000												
OR2M4	26245	broad.mit.edu	37	1	248402877	248402877	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:248402877T>G	uc010pzh.1	+	1	647	c.647T>G	c.(646-648)CTT>CGT	p.L216R		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTTATCATACTTTCCTATTCC	0.478000												
C10orf18	54906	broad.mit.edu	37	10	5769036	5769036	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr10:5769036A>G	uc001iij.2	+	10	1062	c.437A>G	c.(436-438)AAG>AGG	p.K146R		NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	146										ovary(1)|central_nervous_system(1)	2						TTTGGAGGCAAGCAGATGGGT	0.284000												
CACNB2	783	broad.mit.edu	37	10	18828261	18828261	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr10:18828261C>T	uc001ipr.2	+	14	1651	c.1591C>T	c.(1591-1593)CGC>TGC	p.R531C	CACNB2_uc009xjz.1_Missense_Mutation_p.R281C|CACNB2_uc001ips.2_Missense_Mutation_p.R507C|CACNB2_uc001ipt.2_Missense_Mutation_p.R493C|CACNB2_uc001ipu.2_Missense_Mutation_p.R503C|CACNB2_uc001ipv.2_Missense_Mutation_p.R479C|CACNB2_uc009xka.1_Missense_Mutation_p.R465C|CACNB2_uc001ipw.2_Missense_Mutation_p.R438C|CACNB2_uc001ipx.2_Missense_Mutation_p.R476C|CACNB2_uc001ipz.2_Missense_Mutation_p.R453C|CACNB2_uc001ipy.2_Missense_Mutation_p.R477C|CACNB2_uc010qco.1_Missense_Mutation_p.R445C|CACNB2_uc001iqa.2_Missense_Mutation_p.R483C|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	531					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATCCCAGCACCGCTCTTCCTC	0.552000												
MYO3A	53904	broad.mit.edu	37	10	26243904	26243904	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr10:26243904A>C	uc001isn.2	+	4	630	c.270A>C	c.(268-270)AAA>AAC	p.K90N	MYO3A_uc009xko.1_Missense_Mutation_p.K90N|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.K90N|MYO3A_uc001ism.2_Missense_Mutation_p.K90N	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	90	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						AGAAGGATAAAGTAAATGGAG	0.373000												
PCDH15	65217	broad.mit.edu	37	10	55996686	55996686	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr10:55996686T>G	uc001jju.1	-	9	1277	c.882A>C	c.(880-882)GAA>GAC	p.E294D	PCDH15_uc010qhq.1_Missense_Mutation_p.E299D|PCDH15_uc010qhr.1_Missense_Mutation_p.E294D|PCDH15_uc010qhs.1_Missense_Mutation_p.E299D|PCDH15_uc010qht.1_Missense_Mutation_p.E294D|PCDH15_uc010qhu.1_Missense_Mutation_p.E294D|PCDH15_uc001jjv.1_Missense_Mutation_p.E272D|PCDH15_uc010qhv.1_Missense_Mutation_p.E294D|PCDH15_uc010qhw.1_Missense_Mutation_p.E257D|PCDH15_uc010qhx.1_Missense_Mutation_p.E294D|PCDH15_uc010qhy.1_Missense_Mutation_p.E299D|PCDH15_uc010qhz.1_Missense_Mutation_p.E294D|PCDH15_uc010qia.1_Missense_Mutation_p.E272D|PCDH15_uc010qib.1_Missense_Mutation_p.E272D|PCDH15_uc001jjw.2_Missense_Mutation_p.E294D	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	294	Cadherin 3.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGGGTTCAGTTCTTCCTGAA	0.398000										HNSCC(58;0.16)		
KIAA1279	26128	broad.mit.edu	37	10	70765585	70765585	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr10:70765585C>A	uc001joy.2	+	4	799	c.703C>A	c.(703-705)CTA>ATA	p.L235I		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	235					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						CCATAGTACACTAAAACGCCA	0.403000												
IFIT1B	439996	broad.mit.edu	37	10	91143418	91143418	+	Silent	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr10:91143418T>G	uc001kgh.2	+	2	428	c.348T>G	c.(346-348)ACT>ACG	p.T116T	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	interferon-induced protein with	116	TPR 2.						binding				0						AAGCCCAGACTTACCTGGACA	0.502000												
OR52K1	390036	broad.mit.edu	37	11	4510347	4510347	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:4510347T>A	uc001lza.1	+	1	217	c.217T>A	c.(217-219)TTG>ATG	p.L73M		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	73	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AACCATTGACTTGGTTCTTTC	0.493000												
OR51A7	119687	broad.mit.edu	37	11	4928970	4928970	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:4928970T>G	uc010qyq.1	+	1	371	c.371T>G	c.(370-372)CTT>CGT	p.L124R		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACCGCTTTCTTGCCATTCAC	0.393000												
OR5P3	120066	broad.mit.edu	37	11	7847027	7847027	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:7847027T>C	uc010rbg.1	-	1	493	c.493A>G	c.(493-495)AGA>GGA	p.R165G		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGGACAGTCTTAATAAGCAG	0.423000												
OR4C11	219429	broad.mit.edu	37	11	55371158	55371158	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:55371158T>G	uc010rii.1	-	1	692	c.692A>C	c.(691-693)AAG>ACG	p.K231T		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGCCTTTTTCTTCCCTTTGGC	0.418000												
OR4C11	219429	broad.mit.edu	37	11	55371231	55371231	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:55371231T>G	uc010rii.1	-	1	619	c.619A>C	c.(619-621)AGT>CGT	p.S207R		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATGAAACTACTTGAGCAAATT	0.423000												
SLC22A10	387775	broad.mit.edu	37	11	63129941	63129941	+	RNA	SNP	G	G	C	rs148177936	by1000genomes	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:63129941G>C	uc010rmo.1	+	9		c.1063G>C						Q63ZE4	S22AA_HUMAN	Homo sapiens mRNA for putative protein product of HMFN2567, complete cds.							integral to membrane	transmembrane transporter activity			ovary(2)	2						TGCTGGAATAGAATGAAGAAT	0.448000												
LRP5	4041	broad.mit.edu	37	11	68115710	68115710	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:68115710G>A	uc001ont.2	+	2	562	c.487G>A	c.(487-489)GGG>AGG	p.G163R	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	163	Beta-propeller 1.|LDL-receptor class B 3.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CCCCGCTCACGGGTAAACCCT	0.597000												
YAP1	10413	broad.mit.edu	37	11	101985013	101985013	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:101985013A>G	uc001pgt.2	+	2	830	c.460A>G	c.(460-462)ACA>GCA	p.T154A	YAP1_uc001pgs.2_Missense_Mutation_p.T154A|YAP1_uc001pgu.2_Missense_Mutation_p.T154A|YAP1_uc001pgv.2_Missense_Mutation_p.T154A|YAP1_uc010ruo.1_5'UTR|YAP1_uc001pgw.2_5'UTR	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Yes-associated protein 1, 65kDa isoform 1	154					cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		CCCAGCAGCTACACCCACAGC	0.532000												
MLL	4297	broad.mit.edu	37	11	118375060	118375060	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr11:118375060C>T	uc001pta.2	+	27	8467	c.8444C>T	c.(8443-8445)CCC>CTC	p.P2815L	MLL_uc001ptb.2_Missense_Mutation_p.P2818L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2815					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ACAAGTACCCCCTCCGACAAA	0.453000			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
STYK1	55359	broad.mit.edu	37	12	10775239	10775239	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:10775239A>G	uc001qys.2	-	9	1486	c.965T>C	c.(964-966)CTA>CCA	p.L322P		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	322	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						ATCCTTACCTAGAGTCACCAT	0.383000										HNSCC(73;0.22)		
ABCC9	10060	broad.mit.edu	37	12	22025613	22025613	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:22025613A>G	uc001rfi.1	-	16	2164	c.2144T>C	c.(2143-2145)CTC>CCC	p.L715P	ABCC9_uc001rfh.2_Missense_Mutation_p.L715P|ABCC9_uc001rfj.1_Missense_Mutation_p.L679P	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	715	Cytoplasmic (Potential).|ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GATGGCAAGGAGAAGAGAGGA	0.423000												
LRRK2	120892	broad.mit.edu	37	12	40699659	40699659	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:40699659T>G	uc001rmg.3	+	28	3971	c.3850T>G	c.(3850-3852)TTT>GTT	p.F1284V	LRRK2_uc009zjw.2_Missense_Mutation_p.F122V|LRRK2_uc001rmi.2_Missense_Mutation_p.F117V	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1284	LRR 12.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACTAAGATCCTTTCCCAATGA	0.363000												
MLL2	8085	broad.mit.edu	37	12	49445717	49445717	+	Silent	SNP	A	A	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:49445717A>C	uc001rta.3	-	10	1749	c.1749T>G	c.(1747-1749)CCT>CCG	p.P583P		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	583	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.|10.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTTCAGGTGGAGGGGACATGG	0.592000			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
KRT73	319101	broad.mit.edu	37	12	53010025	53010025	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:53010025G>A	uc001sas.2	-	2	622	c.587C>T	c.(586-588)ACG>ATG	p.T196M		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	196	Coil 1B.|Rod.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCAGACAGCGTCTCCAGCTG	0.597000												
KRT1	3848	broad.mit.edu	37	12	53072332	53072332	+	Missense_Mutation	SNP	C	C	T	rs60359468		TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:53072332C>T	uc001sau.1	-	2	859	c.800G>A	c.(799-801)CGG>CAG	p.R267Q	KRT1_uc001sav.1_Missense_Mutation_p.R267Q	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	267	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						TTACTTGTTCCGGTAATCCTC	0.443000												
LRP1	4035	broad.mit.edu	37	12	57560825	57560825	+	Silent	SNP	G	G	A	rs78054559	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:57560825G>A	uc001snd.2	+	18	3376	c.2910G>A	c.(2908-2910)TCG>TCA	p.S970S	LRP1_uc009zph.1_5'Flank|LRP1_uc009zpi.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	970	LDL-receptor class A 5.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.S970L(1)		ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGTCTGCTTCGTGTGGTAAGA	0.637000												
SLC26A10	65012	broad.mit.edu	37	12	58019453	58019453	+	Silent	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:58019453T>G	uc001spe.2	+	14	1928	c.1617T>G	c.(1615-1617)GCT>GCG	p.A539A	SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_Intron	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	539	STAS.					integral to membrane	antiporter activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(17;0.122)					ATGCAGCTGCTTATGCCCTGG	0.627000												
OAS2	4939	broad.mit.edu	37	12	113442842	113442842	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:113442842G>A	uc001tuj.2	+	7	1423	c.1283G>A	c.(1282-1284)CGG>CAG	p.R428Q	OAS2_uc001tui.1_Missense_Mutation_p.R428Q	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	428	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						AAAAACGAGCGGCACAAAATC	0.502000												
DDX54	79039	broad.mit.edu	37	12	113603716	113603716	+	Silent	SNP	A	A	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:113603716A>G	uc001tup.2	-	13	1564	c.1536T>C	c.(1534-1536)GCT>GCC	p.A512A	DDX54_uc001tuq.3_Silent_p.A512A	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	512					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						GGGCGTTATCAGCAACGCGGG	0.667000												
KDM2B	84678	broad.mit.edu	37	12	122016842	122016842	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr12:122016842C>A	uc001uat.2	-	2	240	c.136G>T	c.(136-138)GAC>TAC	p.D46Y	KDM2B_uc001uas.2_Missense_Mutation_p.D15Y|KDM2B_uc001uau.2_5'UTR|KDM2B_uc001uav.3_Missense_Mutation_p.D46Y	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	46					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						CGCTGGCGGTCAATCGGGCGC	0.627000												
MBNL2	10150	broad.mit.edu	37	13	97999166	97999166	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr13:97999166G>A	uc010aft.2	+	5	1465	c.649G>A	c.(649-651)GTT>ATT	p.V217I	MBNL2_uc001vmz.2_Missense_Mutation_p.V217I|MBNL2_uc001vna.2_Missense_Mutation_p.V217I|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Intron|MBNL2_uc001vnc.2_5'Flank	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	217	C3H1-type 4.				mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CACCGTAACCGTTTGTATGGA	0.532000												
NALCN	259232	broad.mit.edu	37	13	101742293	101742293	+	Silent	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr13:101742293G>A	uc001vox.1	-	29	3483	c.3294C>T	c.(3292-3294)TTC>TTT	p.F1098F		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1098	Extracellular (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCACATTGTCGAAATTAAAGT	0.463000												
FLRT2	23768	broad.mit.edu	37	14	86087927	86087927	+	Silent	SNP	C	C	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr14:86087927C>A	uc001xvr.2	+	2	836	c.69C>A	c.(67-69)TCC>TCA	p.S23S	FLRT2_uc010atd.2_Silent_p.S23S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	23					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTATCATTTCCCTGGGGCTCT	0.502000												
KCNK13	56659	broad.mit.edu	37	14	90651134	90651134	+	Silent	SNP	C	C	T	rs139412063	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr14:90651134C>T	uc001xye.1	+	2	1456	c.1014C>T	c.(1012-1014)GAC>GAT	p.D338D		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	338	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				GTGACACGGACGGGCGCCGGC	0.602000												
UBE3A	7337	broad.mit.edu	37	15	25616755	25616755	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr15:25616755T>G	uc001zaq.2	-	4	575	c.575A>C	c.(574-576)GAA>GCA	p.E192A	uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.E169A|UBE3A_uc001zas.2_Missense_Mutation_p.E189A|UBE3A_uc001zat.2_Missense_Mutation_p.E169A	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	192					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTTTTCCTTTTCATCTTCATC	0.423000												
SPTBN5	51332	broad.mit.edu	37	15	42178399	42178399	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr15:42178399G>A	uc001zos.2	-	7	1282	c.949C>T	c.(949-951)CGC>TGC	p.R317C		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	352	Spectrin 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCTGGGTGCGGAAGATGGTG	0.637000												
RUNDC2A	84127	broad.mit.edu	37	16	12096857	12096857	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr16:12096857C>T	uc002dbw.1	+	3	141	c.79C>T	c.(79-81)CGC>TGC	p.R27C		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	27										ovary(1)	1						GTGCCAGATCCGCTTTGGAGG	0.502000			T	CIITA	PMBL|Hodgkin Lymphona|							
CMIP	80790	broad.mit.edu	37	16	81739133	81739133	+	Silent	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr16:81739133G>A	uc002fgp.2	+	19	2193	c.2121G>A	c.(2119-2121)TCG>TCA	p.S707S	CMIP_uc002fgq.1_Silent_p.S613S|CMIP_uc010vnq.1_Silent_p.S520S|CMIP_uc002fgr.1_Silent_p.S554S	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	673	LRR 2.					cytoplasm|nucleus					0						GGCTCCTGTCGGAACACCTCA	0.647000												
GLOD4	51031	broad.mit.edu	37	17	680125	680125	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:680125G>A	uc002frv.2	-	4	365	c.289C>T	c.(289-291)CTT>TTT	p.L97F	GLOD4_uc002frt.2_Missense_Mutation_p.L26F|GLOD4_uc002fru.2_Missense_Mutation_p.L82F|GLOD4_uc010vqc.1_Missense_Mutation_p.L73F	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	97						mitochondrion					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCATTGCCAAGCTTGTAGTCT	0.299000												
TP53	7157	broad.mit.edu	37	17	7577084	7577084	+	Missense_Mutation	SNP	T	T	A	rs121912667		TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:7577084T>A	uc002gim.2	-	8	1048	c.854A>T	c.(853-855)GAG>GTG	p.E285V	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153V|TP53_uc010cng.1_Missense_Mutation_p.E153V|TP53_uc002gii.1_Missense_Mutation_p.E153V|TP53_uc010cnh.1_Missense_Mutation_p.E285V|TP53_uc010cni.1_Missense_Mutation_p.E285V|TP53_uc002gij.2_Missense_Mutation_p.E285V	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	285	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (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.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(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)		ATTCTCTTCCTCTGTGCGCCG	0.562000		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)		
DNAH2	146754	broad.mit.edu	37	17	7724572	7724572	+	Missense_Mutation	SNP	G	G	A	rs142766785		TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:7724572G>A	uc002giu.1	+	72	11041	c.11027G>A	c.(11026-11028)CGT>CAT	p.R3676H	DNAH2_uc010cnm.1_Missense_Mutation_p.R614H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3676					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TACACCTGCCGTACCCTTTTC	0.483000												
DNAH9	1770	broad.mit.edu	37	17	11795238	11795238	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:11795238A>C	uc002gne.2	+	58	11325	c.11257A>C	c.(11257-11259)ACC>CCC	p.T3753P	DNAH9_uc010coo.2_Missense_Mutation_p.T3047P|DNAH9_uc002gnf.2_Missense_Mutation_p.T65P|DNAH9_uc010vvh.1_Missense_Mutation_p.T106P	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3753					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATAAGCTGACCTACCTTGC	0.473000												
MPRIP	23164	broad.mit.edu	37	17	17077343	17077343	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:17077343T>G	uc002gqu.1	+	18	2599	c.2543T>G	c.(2542-2544)CTG>CGG	p.L848R	MPRIP_uc002gqv.1_Missense_Mutation_p.L848R|MPRIP_uc002gqw.1_Missense_Mutation_p.L603R|MPRIP_uc002gqx.1_Missense_Mutation_p.L1077R|MPRIP_uc002gqy.1_Missense_Mutation_p.L1077R|MPRIP_uc010cpl.1_Missense_Mutation_p.L74R|MPRIP_uc010cpm.1_Missense_Mutation_p.L74R	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	848	Interaction with PPP1R12A.|Potential.					cytoplasm|cytoskeleton	actin binding				0						CGGCAGGCCCTGCGGCAGTGC	0.647000												
NLK	51701	broad.mit.edu	37	17	26518100	26518100	+	Silent	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:26518100G>A	uc010crj.2	+	9	1502	c.1290G>A	c.(1288-1290)GGG>GGA	p.G430G	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	430					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TAGATGAAGGGCGACTACGAT	0.423000												
FOXN1	8456	broad.mit.edu	37	17	26851592	26851592	+	Silent	SNP	A	A	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:26851592A>C	uc010crm.2	+	3	393	c.195A>C	c.(193-195)CCA>CCC	p.P65P	FOXN1_uc002hbj.2_Silent_p.P65P	NM_003593	NP_003584	O15353	FOXN1_HUMAN	forkhead box N1	65					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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			skin(1)	1	Lung NSC(42;0.00431)					CACTGCCCCCACACAGCCCCC	0.662000												
GIT1	28964	broad.mit.edu	37	17	27903385	27903385	+	Silent	SNP	C	C	T	rs144848199		TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:27903385C>T	uc002hef.2	-	14	1678	c.1464G>A	c.(1462-1464)GCG>GCA	p.A488A	GIT1_uc002heg.2_Silent_p.A497A|GIT1_uc010wbg.1_Silent_p.A497A|GIT1_uc010csb.1_Silent_p.A488A	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	488					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding				0				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GTGTGTGTTCCGCCCGTTCAC	0.652000												
NLE1	54475	broad.mit.edu	37	17	33464035	33464035	+	Silent	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:33464035G>A	uc002hiy.1	-	7	841	c.813C>T	c.(811-813)GTC>GTT	p.V271V	NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	271	WD 4.					nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)				GAGCTCTCCAGACTTTGATGG	0.577000												
MYL4	4635	broad.mit.edu	37	17	45299205	45299205	+	Silent	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:45299205C>T	uc002ilg.2	+	5	599	c.471C>T	c.(469-471)CAC>CAT	p.H157H	MYL4_uc002ilh.2_Silent_p.H157H	NM_001002841	NP_001002841	P12829	MYL4_HUMAN	atrial/embryonic alkali myosin light chain	157	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			ovary(2)	2						AGCTTCGGCACGTCCTTGCCA	0.602000												
VEZF1	7716	broad.mit.edu	37	17	56059243	56059243	+	Silent	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:56059243G>A	uc002ivf.1	-	3	926	c.783C>T	c.(781-783)TTC>TTT	p.F261F	VEZF1_uc010dcn.1_Silent_p.F105F	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	zinc finger protein 161	261	C2H2-type 5.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						CTTGGCATTTGAAGGGTCTTT	0.378000												
VEZF1	7716	broad.mit.edu	37	17	56059278	56059278	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:56059278G>A	uc002ivf.1	-	3	891	c.748C>T	c.(748-750)CAT>TAT	p.H250Y	VEZF1_uc010dcn.1_Missense_Mutation_p.H94Y	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	zinc finger protein 161	250	C2H2-type 4.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TGTTTTACATGACAGCTTAAG	0.378000												
RPS6KB1	6198	broad.mit.edu	37	17	58024086	58024086	+	Silent	SNP	A	A	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:58024086A>T	uc002ixy.2	+	15	1618	c.1515A>T	c.(1513-1515)CCA>CCT	p.P505P	RPS6KB1_uc010ddj.1_Intron|RPS6KB1_uc010wom.1_Silent_p.P452P|RPS6KB1_uc010won.1_Silent_p.P482P|RPS6KB1_uc010woo.1_Silent_p.P440P|RPS6KB1_uc002ixz.2_RNA	NM_003161	NP_003152	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	505	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			large_intestine(1)	1	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACTCTGGGCCATACAAAAAAC	0.453000												
PRKAR1A	5573	broad.mit.edu	37	17	66524021	66524021	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr17:66524021T>G	uc002jhg.2	+	8	929	c.749T>G	c.(748-750)CTT>CGT	p.L250R	PRKAR1A_uc002jhh.2_Missense_Mutation_p.L250R|PRKAR1A_uc002jhi.2_Missense_Mutation_p.L250R|PRKAR1A_uc002jhj.2_Missense_Mutation_p.L250R|PRKAR1A_uc002jhk.2_Missense_Mutation_p.L126R|PRKAR1A_uc002jhl.2_Missense_Mutation_p.L250R|PRKAR1A_uc002jhm.2_Missense_Mutation_p.L250R	NM_212471	NP_997636	P10644	KAP0_HUMAN	cAMP-dependent protein kinase, regulatory	250	cAMP 1.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1)	12	Breast(10;1.64e-13)					GAGGAATTCCTTAGTAAAGTC	0.368000			T|Mis|N|F|S	RET	papillary thyroid	myxoma|endocrine|papillary thyroid			Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of			
DCC	1630	broad.mit.edu	37	18	50278619	50278619	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr18:50278619C>G	uc002lfe.1	+	2	874	c.287C>G	c.(286-288)TCT>TGT	p.S96C	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	96	Extracellular (Potential).|Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCAAATGGGTCTCTGCTGATA	0.458000												
CYB5A	1528	broad.mit.edu	37	18	71920857	71920857	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr18:71920857C>G	uc002lli.2	-	5	478	c.367G>C	c.(367-369)GTC>CTC	p.V123L	CYB5A_uc002llh.2_3'UTR	NM_148923	NP_683725	P00167	CYB5_HUMAN	cytochrome b-5 isoform 1	123	Helical; (Potential).				electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding				0		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	ATCAAGGCGACGGCCACTGCA	0.512000												
SALL3	27164	broad.mit.edu	37	18	76754852	76754852	+	Missense_Mutation	SNP	C	C	T	rs142929767	by1000genomes	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr18:76754852C>T	uc002lmt.2	+	2	2861	c.2861C>T	c.(2860-2862)GCG>GTG	p.A954V	SALL3_uc010dra.2_Missense_Mutation_p.A561V	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	954					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		cctggccgcgcgggcATCAAG	0.512000												
HAPLN4	404037	broad.mit.edu	37	19	19371983	19371983	+	Silent	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr19:19371983C>T	uc002nmb.2	-	3	178	c.123G>A	c.(121-123)GAG>GAA	p.E41E	HAPLN4_uc002nmc.2_Silent_p.E41E	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	41					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			CCGACTCACCCTCTGAGGACA	0.642000												
ZNF99	7652	broad.mit.edu	37	19	22939535	22939535	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr19:22939535T>G	uc010xrh.1	-	7	2636	c.2636A>C	c.(2635-2637)AAG>ACG	p.K879T		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGAATTATCTTATGTTTCAT	0.348000												
ZNF829	374899	broad.mit.edu	37	19	37383033	37383033	+	Silent	SNP	A	A	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr19:37383033A>G	uc002ofa.1	-	6	1022	c.660T>C	c.(658-660)GCT>GCC	p.A220A	ZNF345_uc002oez.2_Intron	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	220	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACAACTAAAAGCCTTGCCAC	0.403000												
ZNF585A	199704	broad.mit.edu	37	19	37644040	37644040	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr19:37644040T>C	uc002ofo.1	-	5	992	c.761A>G	c.(760-762)AAG>AGG	p.K254R	ZNF585A_uc002ofm.1_Missense_Mutation_p.K199R|ZNF585A_uc002ofn.1_Missense_Mutation_p.K199R	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	254	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGTGTGGACTTTTGTGTGAA	0.423000												
SIGLEC12	89858	broad.mit.edu	37	19	52002437	52002437	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr19:52002437T>A	uc002pwx.1	-	4	1178	c.1122A>T	c.(1120-1122)CAA>CAT	p.Q374H	SIGLEC12_uc002pww.1_Missense_Mutation_p.Q256H|SIGLEC12_uc010eoy.1_Missense_Mutation_p.Q101H	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	374	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCCATCTCCTTGGAAGACAG	0.572000												
ZNF578	147660	broad.mit.edu	37	19	53014994	53014994	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr19:53014994T>C	uc002pzp.3	+	6	1604	c.1360T>C	c.(1360-1362)TCT>CCT	p.S454P		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGAGAGAAATCTTACAAATG	0.373000												
KIR2DL4	3805	broad.mit.edu	37	19	55320312	55320312	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr19:55320312C>G	uc010yfm.1	+	5	720	c.680C>G	c.(679-681)TCA>TGA	p.S227*	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Nonsense_Mutation_p.S222*|KIR2DL4_uc002qhg.2_Nonsense_Mutation_p.S227*|KIR2DL4_uc002qhi.2_Intron|KIR2DL4_uc002qhh.2_Nonsense_Mutation_p.S132*|KIR2DL4_uc002qhj.2_Intron|KIR2DL4_uc002qhf.2_Intron|KIR2DL4_uc010esd.2_Intron|KIR2DL4_uc010ese.2_Intron	NM_002255	NP_002246	Q99706	KI2L4_HUMAN	killer cell immunoglobulin-like receptor, two	227	Extracellular (Potential).				cellular defense response|regulation of immune response	integral to plasma membrane	protein binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0192)		AGTTGGCCTTCACCCACTGAA	0.403000												
KCNF1	3754	broad.mit.edu	37	2	11053508	11053508	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr2:11053508G>A	uc002rax.2	+	1	1446	c.956G>A	c.(955-957)CGC>CAC	p.R319H		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	319	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GCCCTCAAGCGCAGCTTCAAG	0.632000												
VRK2	7444	broad.mit.edu	37	2	58386561	58386561	+	Silent	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr2:58386561C>T	uc002rzo.2	+	16	2005	c.1260C>T	c.(1258-1260)ATC>ATT	p.I420I	VRK2_uc010fcb.2_3'UTR|VRK2_uc002rzs.2_3'UTR|VRK2_uc002rzr.2_3'UTR|VRK2_uc010fcc.2_Silent_p.I302I|VRK2_uc002rzv.2_Silent_p.I420I|VRK2_uc010fcd.2_Silent_p.I397I|VRK2_uc002rzp.2_Silent_p.I420I|VRK2_uc010ypg.1_Silent_p.I420I|VRK2_uc002rzq.2_3'UTR|VRK2_uc002rzu.2_3'UTR|VRK2_uc002rzt.2_Silent_p.I302I|FANCL_uc002rzw.3_3'UTR|FANCL_uc002rzx.3_3'UTR|FANCL_uc010fce.2_3'UTR	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	vaccinia related kinase 2 isoform 2	420						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						CACAAAAAATCAGCTATACAC	0.333000												
LRP1B	53353	broad.mit.edu	37	2	141946115	141946115	+	Silent	SNP	A	A	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr2:141946115A>G	uc002tvj.1	-	7	1860	c.888T>C	c.(886-888)AAT>AAC	p.N296N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	296	Extracellular (Potential).|LDL-receptor class B 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAAATAGAGATTTCGAGTGA	0.408000										TSP Lung(27;0.18)		
OSBPL6	114880	broad.mit.edu	37	2	179260240	179260240	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr2:179260240G>A	uc002ulx.2	+	25	3137	c.2759G>A	c.(2758-2760)CGA>CAA	p.R920Q	OSBPL6_uc002uly.2_Missense_Mutation_p.R945Q|OSBPL6_uc010zfe.1_Missense_Mutation_p.R889Q|OSBPL6_uc002ulz.2_Missense_Mutation_p.R884Q|OSBPL6_uc002uma.2_Missense_Mutation_p.R924Q	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	920					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TGGGAGCTTCGAAAGGACCCT	0.393000												
TTN	7273	broad.mit.edu	37	2	179423358	179423359	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr2:179423358_179423359GG>TT	uc010zfg.1	-	276	79347_79348	c.79123_79124CC>AA	c.(79123-79125)CCA>AAA	p.P26375K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P20070K|TTN_uc010zfi.1_Missense_Mutation_p.P20003K|TTN_uc010zfj.1_Missense_Mutation_p.P19878K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27302							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)			AGGTGGGCTTGGTTTTTCTAAG	0.361000												
ERBB4	2066	broad.mit.edu	37	2	212251754	212251754	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr2:212251754A>C	uc002veg.1	-	27	3403	c.3305T>G	c.(3304-3306)TTT>TGT	p.F1102C	ERBB4_uc002veh.1_Missense_Mutation_p.F1086C|ERBB4_uc010zji.1_Missense_Mutation_p.F1092C|ERBB4_uc010zjj.1_Missense_Mutation_p.F1076C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1102	Cytoplasmic (Potential).				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)		GGAGTCATCAAAAATCTCAGC	0.547000										TSP Lung(8;0.080)		
PDYN	5173	broad.mit.edu	37	20	1961114	1961114	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr20:1961114T>A	uc010gaj.2	-	3	862	c.620A>T	c.(619-621)TAT>TTT	p.Y207F	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.Y207F|PDYN_uc010zpt.1_Missense_Mutation_p.Y52F	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	207					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						GAAGCCCCCATAGCGTTTGTA	0.597000												
CSTL1	128817	broad.mit.edu	37	20	23421043	23421043	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr20:23421043T>G	uc002wte.2	+	2	385	c.139T>G	c.(139-141)TTC>GTC	p.F47V	CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	cystatin-like 1 precursor	47						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0993)|Lung NSC(19;0.235)					AACACTCAACTTCTTCATTCA	0.483000												
CST5	1473	broad.mit.edu	37	20	23860165	23860165	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr20:23860165A>T	uc002wtr.1	-	1	216	c.149T>A	c.(148-150)TTT>TAT	p.F50Y		NM_001900	NP_001891	P28325	CYTD_HUMAN	cystatin D precursor	50						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding				0						GCTGATGGCAAAGTCCAGGGC	0.582000												
CPNE1	8904	broad.mit.edu	37	20	34220233	34220233	+	Silent	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr20:34220233C>T	uc002xdf.2	-	6	747	c.384G>A	c.(382-384)ACG>ACA	p.T128T	CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Silent_p.T133T|CPNE1_uc002xde.2_Silent_p.T128T|CPNE1_uc002xdg.2_Silent_p.T128T|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.T128T|CPNE1_uc002xdi.2_Silent_p.T128T|CPNE1_uc002xdj.2_Silent_p.T128T|CPNE1_uc002xdk.2_Silent_p.T128T|CPNE1_uc002xdl.2_Silent_p.T128T|CPNE1_uc002xdm.2_Silent_p.T128T|CPNE1_uc010gfk.1_Silent_p.T128T|CPNE1_uc002xdn.1_RNA|CPNE1_uc002xdo.1_RNA|CPNE1_uc002xdp.1_RNA	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	128					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGTTCCTTACCGTGATGGTCC	0.522000												
PES1	23481	broad.mit.edu	37	22	30984024	30984024	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr22:30984024T>G	uc003aij.1	-	3	316	c.242A>C	c.(241-243)AAG>ACG	p.K81T	PES1_uc003aik.1_Missense_Mutation_p.K81T|PES1_uc003ail.1_Missense_Mutation_p.K81T|PES1_uc003aim.1_Missense_Mutation_p.K81T|PES1_uc003ain.1_5'UTR|PES1_uc003aio.1_5'UTR	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	81	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						TTCACGGAACTTGTTGACAAT	0.284000												
SBF1	6305	broad.mit.edu	37	22	50895067	50895067	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr22:50895067T>C	uc003blh.2	-	30	4135	c.3940A>G	c.(3940-3942)AGT>GGT	p.S1314G	SBF1_uc003ble.2_5'Flank|SBF1_uc003blf.2_5'Flank|SBF1_uc011arx.1_Missense_Mutation_p.S952G	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1288	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCAAGGCCACTGCTGCGTCCA	0.692000												
CNTN6	27255	broad.mit.edu	37	3	1337371	1337371	+	Missense_Mutation	SNP	T	T	G	rs150338565	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:1337371T>G	uc003boz.2	+	6	808	c.541T>G	c.(541-543)TTG>GTG	p.L181V	CNTN6_uc010hbo.2_Missense_Mutation_p.L176V|CNTN6_uc011asj.1_Missense_Mutation_p.L109V|CNTN6_uc003bpa.2_Missense_Mutation_p.L181V	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	181	Ig-like C2-type 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GACGGGAAACTTGTACATTGC	0.418000												
ZNF385D	79750	broad.mit.edu	37	3	21552487	21552487	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:21552487G>A	uc003cce.2	-	4	713	c.305C>T	c.(304-306)ACG>ATG	p.T102M	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	102	Matrin-type 1.					nucleus	nucleic acid binding|zinc ion binding	p.T102T(1)		large_intestine(2)|skin(2)|ovary(1)	5						GGCATGTTTCGTGCCTTTGTA	0.453000												
SCN10A	6336	broad.mit.edu	37	3	38768457	38768457	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:38768457G>C	uc003ciq.2	-	16	2727	c.2727C>G	c.(2725-2727)AAC>AAG	p.N909K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	909					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCACCTGCAGGTTGTTCACCT	0.567000												
ANO10	55129	broad.mit.edu	37	3	43642035	43642035	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:43642035C>T	uc003cmv.2	-	3	349	c.178G>A	c.(178-180)GAA>AAA	p.E60K	ANO10_uc011azs.1_Missense_Mutation_p.E60K|ANO10_uc003cmw.2_Intron|ANO10_uc010hil.2_Missense_Mutation_p.E60K|ANO10_uc011azt.1_Intron	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	60	Cytoplasmic (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2						GTTTCTTGTTCATATTTATTT	0.333000												
STAB1	23166	broad.mit.edu	37	3	52556627	52556627	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:52556627T>G	uc003dej.2	+	61	6741	c.6667T>G	c.(6667-6669)TTT>GTT	p.F2223V	STAB1_uc003dek.1_Missense_Mutation_p.F238V|STAB1_uc003del.2_Missense_Mutation_p.F110V	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2223	Extracellular (Potential).|Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGGTCTGAACTTTTCGGAGGC	0.622000												
HESX1	8820	broad.mit.edu	37	3	57232457	57232457	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:57232457A>T	uc003din.3	-	3	755	c.421T>A	c.(421-423)TTA>ATA	p.L141I		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	141	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TTTTGAGCTAAGTCTTCTCTA	0.279000												
SLCO2A1	6578	broad.mit.edu	37	3	133661595	133661595	+	Silent	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:133661595G>A	uc003eqa.3	-	11	1753	c.1479C>T	c.(1477-1479)AGC>AGT	p.S493S	SLCO2A1_uc003eqb.3_Silent_p.S417S|SLCO2A1_uc011blv.1_Silent_p.S312S	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	493	Extracellular (Potential).|Kazal-like.				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						CGGTCACACAGCTGCAGTTCA	0.527000												
HRG	3273	broad.mit.edu	37	3	186383975	186383975	+	Missense_Mutation	SNP	G	G	A	rs115116898	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:186383975G>A	uc003fqq.2	+	1	178	c.155G>A	c.(154-156)CGG>CAG	p.R52Q		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	52	Cystatin 1.|Interaction with ATP5A1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CAATTGCTGCGGATTGCTGAT	0.537000												
ATP13A5	344905	broad.mit.edu	37	3	193002808	193002808	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr3:193002808T>C	uc011bsq.1	-	27	3121	c.3121A>G	c.(3121-3123)AGT>GGT	p.S1041G		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1041					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTCTCAAAACTTAAAATTGAA	0.393000												
SH3TC1	54436	broad.mit.edu	37	4	8218729	8218729	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr4:8218729C>T	uc003gkv.3	+	7	775	c.674C>T	c.(673-675)ACG>ATG	p.T225M	SH3TC1_uc003gkw.3_Missense_Mutation_p.T149M|SH3TC1_uc003gkx.3_Intron	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	225							binding			large_intestine(2)|pancreas(1)	3						AGAGTGATGACGGGTCCCCGG	0.657000												
WDR19	57728	broad.mit.edu	37	4	39216265	39216265	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr4:39216265T>C	uc003gtv.2	+	10	1089	c.935T>C	c.(934-936)ATA>ACA	p.I312T	WDR19_uc010ifl.1_Missense_Mutation_p.I129T|WDR19_uc003gtu.1_Missense_Mutation_p.I312T|WDR19_uc011byi.1_Missense_Mutation_p.I152T|WDR19_uc003gtw.1_5'Flank	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	312					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						ATGTATGTTATACTCAACCTG	0.284000												
GRXCR1	389207	broad.mit.edu	37	4	42895515	42895515	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr4:42895515G>A	uc003gwt.2	+	1	232	c.232G>A	c.(232-234)GAT>AAT	p.D78N		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	78					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						GAATGACCAGGATAGCTTGCT	0.458000												
NDST3	9348	broad.mit.edu	37	4	118975769	118975769	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr4:118975769T>G	uc003ibx.2	+	2	1107	c.704T>G	c.(703-705)TTT>TGT	p.F235C	NDST3_uc011cgf.1_Missense_Mutation_p.F235C|NDST3_uc003ibw.2_Missense_Mutation_p.F235C	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	235	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						CCAGTAATATTTGCCAAAGTA	0.388000												
FAT4	79633	broad.mit.edu	37	4	126411185	126411185	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr4:126411185T>C	uc003ifj.3	+	17	13208	c.13208T>C	c.(13207-13209)ATT>ACT	p.I4403T	FAT4_uc011cgp.1_Missense_Mutation_p.I2644T|FAT4_uc003ifi.1_Missense_Mutation_p.I1880T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4403	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGCCCGAACATTTGTGCCAGC	0.552000												
DCHS2	54798	broad.mit.edu	37	4	155253742	155253742	+	Silent	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr4:155253742G>A	uc003inw.2	-	9	2121	c.2121C>T	c.(2119-2121)CCC>CCT	p.P707P	DCHS2_uc003inx.2_Silent_p.P1206P	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	707	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTACCCCTTGGGGAACAGGGC	0.413000												
C4orf43	55319	broad.mit.edu	37	4	164440523	164440523	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr4:164440523A>C	uc003iqq.3	+	7	750	c.469A>C	c.(469-471)AAA>CAA	p.K157Q		NM_018352	NP_060822	Q96EY4	CD043_HUMAN	hypothetical protein LOC55319	157											0						ACCAAACATTAAAATGAGAAA	0.353000												
AGXT2	64902	broad.mit.edu	37	5	35010216	35010216	+	Silent	SNP	T	T	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:35010216T>C	uc003jjf.2	-	12	1306	c.1227A>G	c.(1225-1227)GAA>GAG	p.E409E	AGXT2_uc003jje.1_Silent_p.E62E|AGXT2_uc011com.1_Silent_p.E334E	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	409					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AGGTCCCAACTTCTTGACTGT	0.403000												
NIPBL	25836	broad.mit.edu	37	5	36955688	36955688	+	Missense_Mutation	SNP	A	A	G	rs142703446	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:36955688A>G	uc003jkl.3	+	3	678	c.179A>G	c.(178-180)AAT>AGT	p.N60S	NIPBL_uc003jkk.3_Missense_Mutation_p.N60S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	60					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGGATGACAATTTGGTTTCA	0.398000												
LIFR	3977	broad.mit.edu	37	5	38527391	38527391	+	Missense_Mutation	SNP	C	C	T	rs61751711	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:38527391C>T	uc010ive.1	-	4	595	c.263G>A	c.(262-264)CGT>CAT	p.R88H	LIFR_uc003jli.2_Missense_Mutation_p.R88H	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	88	Extracellular (Potential).|Fibronectin type-III 1.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					ATAACAAGAACGGGACCTGTA	0.244000			T	PLAG1	salivary adenoma							
BDP1	55814	broad.mit.edu	37	5	70818194	70818194	+	Silent	SNP	A	A	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:70818194A>C	uc003kbp.1	+	23	5333	c.5070A>C	c.(5068-5070)GGA>GGC	p.G1690G	BDP1_uc003kbo.2_Silent_p.G1690G|BDP1_uc003kbq.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1690					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAAATTTGGGAAGAGCACACA	0.393000												
FOXD1	2297	broad.mit.edu	37	5	72743802	72743802	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:72743802G>C	uc003kcp.2	-	1	551	c.386C>G	c.(385-387)TCG>TGG	p.S129W		NM_004472	NP_004463	Q16676	FOXD1_HUMAN	forkhead box D1	129	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA 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		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		CGCGATATACGAGTAGGGCGG	0.458000												
TIFAB	497189	broad.mit.edu	37	5	134785284	134785284	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:134785284C>T	uc003law.3	-	2	547	c.346G>A	c.(346-348)GTA>ATA	p.V116I	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	116											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTTCTTCTACGCGAACCAGC	0.557000												
PCDHA8	56140	broad.mit.edu	37	5	140221669	140221669	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:140221669G>A	uc003lhs.2	+	1	763	c.763G>A	c.(763-765)GCA>ACA	p.A255T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A255T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	255	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCGAAAACGCAGACAACGG	0.423000												
PCDHA10	56139	broad.mit.edu	37	5	140236731	140236731	+	Silent	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:140236731C>T	uc003lhx.2	+	1	1098	c.1098C>T	c.(1096-1098)ACC>ACT	p.T366T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.T366T|PCDHA10_uc011dad.1_Silent_p.T366T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	366	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGGGCACCGTCATTGCCC	0.512000												
PCDHB1	29930	broad.mit.edu	37	5	140431954	140431954	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:140431954A>T	uc003lik.1	+	1	976	c.899A>T	c.(898-900)GAA>GTA	p.E300V		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	300	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAATGGAGAAGTTCGACTA	0.463000												
PCDHGA12	26025	broad.mit.edu	37	5	140811824	140811824	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:140811824A>G	uc003lkt.1	+	1	1667	c.1498A>G	c.(1498-1500)AGC>GGC	p.S500G	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_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.S500G	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	500	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGGGGCAAGCCTATCGTC	0.552000												
HTR4	3360	broad.mit.edu	37	5	147889386	147889386	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:147889386C>T	uc003lpn.2	-	6	873	c.709G>A	c.(709-711)GAG>AAG	p.E237K	HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.E237K|HTR4_uc003lpj.1_Missense_Mutation_p.E237K|HTR4_uc003lpk.2_Missense_Mutation_p.E237K|HTR4_uc011dby.1_Missense_Mutation_p.E237K|HTR4_uc003lpl.2_Missense_Mutation_p.E251K|HTR4_uc003lpm.2_Missense_Mutation_p.E237K|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.E237K	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform b	237	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GGCCTGCTCTCGGAGGAGGCT	0.552000												
ODZ2	57451	broad.mit.edu	37	5	167489111	167489111	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:167489111A>C	uc010jjd.2	+	7	1356	c.1356A>C	c.(1354-1356)GAA>GAC	p.E452D	ODZ2_uc003lzq.2_Missense_Mutation_p.E331D|ODZ2_uc003lzr.3_Missense_Mutation_p.E220D	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GTGAAGCAGAAGTTGGTCGGC	0.453000												
CDHR2	54825	broad.mit.edu	37	5	176005434	176005434	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr5:176005434G>A	uc003mem.1	+	16	1709	c.1643G>A	c.(1642-1644)CGG>CAG	p.R548Q	CDHR2_uc003men.1_Missense_Mutation_p.R548Q	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	548	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						CTGCTGGACCGGGAGAGCCAG	0.572000												
SLC17A3	10786	broad.mit.edu	37	6	25861882	25861882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:25861882G>A	uc003nfi.3	-	4	471	c.361C>T	c.(361-363)CGA>TGA	p.R121*	SLC17A3_uc003nfk.3_Nonsense_Mutation_p.R199*|SLC17A3_uc011djz.1_Nonsense_Mutation_p.R199*|SLC17A3_uc011dka.1_Nonsense_Mutation_p.R121*	NM_006632	NP_006623	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	121					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0						AGTCTGCTTCGTTCTTGTGGA	0.423000												
ABCF1	23	broad.mit.edu	37	6	30551425	30551425	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:30551425T>C	uc003nql.2	+	11	1051	c.956T>C	c.(955-957)TTC>TCC	p.F319S	ABCF1_uc003nqk.2_Missense_Mutation_p.F320S|ABCF1_uc003nqm.2_Missense_Mutation_p.F281S|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	319	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						AAGGAGCTGTTCGTCAATGCA	0.557000												
TAF8	129685	broad.mit.edu	37	6	42044976	42044976	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:42044976A>T	uc003ors.2	+	8	948	c.919A>T	c.(919-921)AAG>TAG	p.K307*	TAF8_uc003ort.2_3'UTR|TAF8_uc003oru.1_3'UTR|TAF8_uc003orv.1_Nonsense_Mutation_p.K307*|TAF8_uc011dun.1_Nonsense_Mutation_p.K231*	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	TBP-associated factor 8	307	Nuclear localization signal (Potential).				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			ovary(1)	1	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CCGCAGGAAGAAGTGAGTTGG	0.592000												
HTR1B	3351	broad.mit.edu	37	6	78172330	78172330	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:78172330G>A	uc003pil.1	-	1	791	c.791C>T	c.(790-792)ACG>ATG	p.T264M		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	264	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GACCGAGGACGTGGACCCGGG	0.597000												
NDUFAF4	29078	broad.mit.edu	37	6	97344625	97344625	+	Silent	SNP	A	A	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:97344625A>G	uc003pow.2	-	2	325	c.235T>C	c.(235-237)TTG>CTG	p.L79L	NDUFAF4_uc003pov.2_RNA	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	79					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			ovary(1)	1						TTTACCTGCAAGGAAGACACA	0.363000												
ROS1	6098	broad.mit.edu	37	6	117631255	117631255	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:117631255T>G	uc003pxp.1	-	40	6622	c.6423A>C	c.(6421-6423)CAA>CAC	p.Q2141H	ROS1_uc011ebi.1_RNA	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	2141	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)		ATACATCAGATTGAGTAGTGA	0.299000			T	GOPC|ROS1	glioblastoma|NSCLC							
TIAM2	26230	broad.mit.edu	37	6	155458563	155458563	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:155458563G>A	uc003qqb.2	+	7	2720	c.1447G>A	c.(1447-1449)GCC>ACC	p.A483T	TIAM2_uc003qqe.2_Missense_Mutation_p.A483T|TIAM2_uc010kjj.2_Missense_Mutation_p.A16T	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	483					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TACAGAAACCGCCGAGTCCAG	0.527000												
SUN1	23353	broad.mit.edu	37	7	905675	905675	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr7:905675T>C	uc011jvp.1	+	17	2030	c.1951T>C	c.(1951-1953)TTC>CTC	p.F651L	GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.F568L|SUN1_uc011jvq.1_Missense_Mutation_p.F548L|SUN1_uc003sjg.2_Missense_Mutation_p.F556L|SUN1_uc011jvr.1_Missense_Mutation_p.F449L|SUN1_uc003sji.2_Missense_Mutation_p.F489L|SUN1_uc003sjk.2_Missense_Mutation_p.F290L	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	678	Perinuclear space.|SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						GCTGTGGTACTTCTCGCAGTC	0.562000												
RELN	5649	broad.mit.edu	37	7	103338436	103338436	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr7:103338436C>G	uc003vca.2	-	10	1167	c.1007G>C	c.(1006-1008)GGT>GCT	p.G336A	RELN_uc010liz.2_Missense_Mutation_p.G336A	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	336					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATACACTTCACCTACACGAAG	0.458000												
FOXP2	93986	broad.mit.edu	37	7	114298186	114298186	+	Silent	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr7:114298186T>G	uc003vhb.2	+	11	1706	c.1332T>G	c.(1330-1332)CCT>CCG	p.P444P	FOXP2_uc003vgu.2_Intron|FOXP2_uc003vgz.2_Silent_p.P469P|FOXP2_uc003vha.2_Silent_p.P352P|FOXP2_uc011kmu.1_Silent_p.P461P|FOXP2_uc011kmv.1_Silent_p.P443P|FOXP2_uc010ljz.1_Intron|FOXP2_uc003vhe.1_Silent_p.P14P	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	444					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA 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|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						AGAGCTTACCTCAAACCCCTA	0.542000												
ESYT2	57488	broad.mit.edu	37	7	158531733	158531733	+	Missense_Mutation	SNP	C	C	T	rs145877575		TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr7:158531733C>T	uc003wob.1	-	18	2395	c.2329G>A	c.(2329-2331)GTG>ATG	p.V777M	ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Missense_Mutation_p.V216M|ESYT2_uc003woa.1_Missense_Mutation_p.V354M	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	805	C2 3.					integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						TGCACGACCACGATAAGCTTG	0.607000												
KIAA1967	57805	broad.mit.edu	37	8	22473260	22473260	+	Silent	SNP	C	C	T	rs151294361	byFrequency	TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr8:22473260C>T	uc003xch.2	+	13	1580	c.1443C>T	c.(1441-1443)AAC>AAT	p.N481N	KIAA1967_uc003xci.2_Silent_p.N481N|KIAA1967_uc003xcj.1_Silent_p.N150N	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	481					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTAGACGGAACGCAGAAACTC	0.587000												
CSMD3	114788	broad.mit.edu	37	8	114290851	114290851	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr8:114290851T>C	uc003ynu.2	-	3	643	c.484A>G	c.(484-486)AGT>GGT	p.S162G	CSMD3_uc003ynt.2_Missense_Mutation_p.S122G|CSMD3_uc011lhx.1_Missense_Mutation_p.S162G|CSMD3_uc010mcx.1_Missense_Mutation_p.S162G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	162	Extracellular (Potential).|CUB 1.					integral to membrane|plasma membrane		p.S162N(1)		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						CCATGAGCACTAACTGCAAAA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
GPAA1	8733	broad.mit.edu	37	8	145139460	145139460	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr8:145139460C>T	uc003zax.2	+	7	1068	c.958C>T	c.(958-960)CGT>TGT	p.R320C	GPAA1_uc003zav.1_Missense_Mutation_p.R198C|GPAA1_uc003zaw.1_Missense_Mutation_p.R260C	NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	320	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTAACCCTGCGTGGCATCAA	0.627000												
TEK	7010	broad.mit.edu	37	9	27172728	27172728	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr9:27172728G>A	uc003zqi.3	+	5	1185	c.743G>A	c.(742-744)GGA>GAA	p.G248E	TEK_uc010mjc.1_Missense_Mutation_p.G101E|TEK_uc011lnn.1_Missense_Mutation_p.G248E|TEK_uc011lno.1_Missense_Mutation_p.G248E|TEK_uc011lnp.1_Missense_Mutation_p.G144E|TEK_uc003zqj.1_Missense_Mutation_p.G225E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	248	Extracellular (Potential).|EGF-like 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGGTTTATGGGAAGGACGTGT	0.433000												
ZMYND19	116225	broad.mit.edu	37	9	140477600	140477600	+	Nonsense_Mutation	SNP	A	A	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr9:140477600A>C	uc004cno.1	-	5	597	c.375T>G	c.(373-375)TAT>TAG	p.Y125*		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	125						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		TTGCAAGCCAATACAAGCTTT	0.488000												
GLRA2	2742	broad.mit.edu	37	X	14625361	14625361	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chrX:14625361T>G	uc010nep.2	+	7	1018	c.686T>G	c.(685-687)CTT>CGT	p.L229R	GLRA2_uc010neq.2_Missense_Mutation_p.L229R|GLRA2_uc004cwe.3_Missense_Mutation_p.L229R|GLRA2_uc011mio.1_Missense_Mutation_p.L140R|GLRA2_uc011mip.1_Missense_Mutation_p.L207R	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	229	Extracellular (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GAGAAGGAACTTGGCTACTGT	0.393000												
CNKSR2	22866	broad.mit.edu	37	X	21627334	21627334	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chrX:21627334A>G	uc004czx.1	+	20	2327	c.2291A>G	c.(2290-2292)CAG>CGG	p.Q764R	CNKSR2_uc004czw.2_Missense_Mutation_p.Q764R|CNKSR2_uc011mjn.1_Missense_Mutation_p.Q715R|CNKSR2_uc011mjo.1_Missense_Mutation_p.Q734R|CNKSR2_uc004czy.2_Missense_Mutation_p.Q356R	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	764					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						ACAGCCAGTCAGCGCCGCTCC	0.532000												
PABPC5	140886	broad.mit.edu	37	X	90691563	90691563	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chrX:90691563T>A	uc004efg.2	+	2	1427	c.987T>A	c.(985-987)AGT>AGA	p.S329R	PABPC5_uc004eff.1_Missense_Mutation_p.S165R	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	329	RRM 4.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						GGTCAATTAGTCGGGCCAAAG	0.448000												
PABPC5	140886	broad.mit.edu	37	X	90691626	90691626	+	Silent	SNP	T	T	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chrX:90691626T>C	uc004efg.2	+	2	1490	c.1050T>C	c.(1048-1050)TCT>TCC	p.S350S	PABPC5_uc004eff.1_Silent_p.S186S	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	350	RRM 4.					cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						GCTTTTCCTCTTTTGAAGAGG	0.532000												
ACTRT1	139741	broad.mit.edu	37	X	127185687	127185687	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chrX:127185687G>T	uc004eum.2	-	1	696	c.499C>A	c.(499-501)CCC>ACC	p.P167T		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	167						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						TCAAAGATGGGGACAGTGCAA	0.577000												
ABCD1	215	broad.mit.edu	37	X	152991318	152991318	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chrX:152991318G>T	uc004fif.2	+	1	996	c.597G>T	c.(595-597)GAG>GAT	p.E199D	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	199	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGACGGAGGACGTGGTGG	0.637000												
PLEC	5339	broad.mit.edu	37	8	144997872	144997873	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr8:144997872_144997873delCA	uc003zaf.1	-	31	6805_6806	c.6635_6636delTG	c.(6634-6636)GTGfs	p.V2212fs	PLEC_uc003zab.1_Frame_Shift_Del_p.V2075fs|PLEC_uc003zac.1_Frame_Shift_Del_p.V2079fs|PLEC_uc003zad.2_Frame_Shift_Del_p.V2075fs|PLEC_uc003zae.1_Frame_Shift_Del_p.V2043fs|PLEC_uc003zag.1_Frame_Shift_Del_p.V2053fs|PLEC_uc003zah.2_Frame_Shift_Del_p.V2061fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.V2102fs	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2212	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCTGGTCCAGCACGCTctgctc	0.599												
FMN2	56776	broad.mit.edu	37	1	240370873	240370873	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr1:240370872_240370872AC>A	uc010pye.2	+	5	2997	c.2772_2772AC>A	c.(2770-2772)atafs	p.I924fs	FMN2_uc010pyd.2_Frame_Shift_Del_p.I920fs	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	920	FH1.|Pro-rich.				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			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGCGGGCATACCTCCTCCGC	0.657												
ZFP57	346171	broad.mit.edu	37	6	29641029	29641030	+	Frame_Shift_Ins	INS	-	-	CTGGCTC			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr6:29641028_29641029A>ACTGGCTC	uc011dlw.2	-	3	1010_1011	c.859_860T>GAGCCAGT	c.(859-861)gtgfs	p.V287fs		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	203					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GTTTCCATCCACTGGCTCCTGG	0.554												
SLC12A3	6559	broad.mit.edu	37	16	56906328	56906329	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8590-01A-11D-2394-08	TCGA-BR-8590-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2040e830-a590-4b3b-a1e1-2addef74d2a3	974b3d0e-a371-4ac2-bf63-94ad2f7e6d44	g.chr16:56906327_56906328T>TC	uc002ekd.4	+	6	946_947	c.917_918T>TC	c.(916-918)atcfs	p.I306fs	SLC12A3_uc010ccm.3_Frame_Shift_Ins_p.I306fs|SLC12A3_uc010ccn.3_Frame_Shift_Ins_p.I305fs	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	306					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGGACGCTGATCCCCCCATCTG	0.574