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
TAS1R1	80835	broad.mit.edu	37	1	6631130	6631130	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr1:6631130T>C	uc001ant.2	+	2	353	c.353T>C	c.(352-354)GTG>GCG	p.V118A	TAS1R1_uc001anu.2_Missense_Mutation_p.V118A|TAS1R1_uc001anv.2_Missense_Mutation_p.V118A|TAS1R1_uc001anw.2_Missense_Mutation_p.V118A	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	118	Extracellular (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ACGCTGAGAGTGCTCTCCCTG	0.562000												
OPRD1	4985	broad.mit.edu	37	1	29185501	29185501	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr1:29185501T>C	uc001brf.1	+	2	505	c.263T>C	c.(262-264)ATC>ACC	p.I88T		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	88	Helical; Name=2; (Potential).				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	AACATCTACATCTTCAACCTG	0.408000												
EIF2C3	192669	broad.mit.edu	37	1	36520681	36520681	+	Silent	SNP	A	A	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr1:36520681A>C	uc001bzp.2	+	18	2665	c.2409A>C	c.(2407-2409)CCA>CCC	p.P803P	EIF2C3_uc001bzq.2_Silent_p.P569P	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	803	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACCTGCACCAGCGTATTATG	0.433000												
DMRTB1	63948	broad.mit.edu	37	1	53925618	53925618	+	Silent	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr1:53925618G>A	uc001cvq.1	+	1	547	c.492G>A	c.(490-492)GCG>GCA	p.A164A		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	164	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CTTTTGGGGCGGAGGCCGCAG	0.716000												
DCST2	127579	broad.mit.edu	37	1	155002981	155002981	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr1:155002981G>T	uc001fgm.2	-	6	1026	c.946C>A	c.(946-948)CTG>ATG	p.L316M	DCST2_uc009wpb.2_RNA	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	316	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACACGGTGCAGCTTCATGCTG	0.622000												
WDR26	80232	broad.mit.edu	37	1	224606064	224606064	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr1:224606064C>T	uc001hop.3	-	6	842	c.476G>A	c.(475-477)CGG>CAG	p.R159Q	WDR26_uc001hoq.3_Missense_Mutation_p.R143Q|WDR26_uc009xei.1_Missense_Mutation_p.R143Q	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	306						cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)		CACCGCCTGCCGCAGGAGAGT	0.388000												
AGT	183	broad.mit.edu	37	1	230839016	230839016	+	Silent	SNP	G	G	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr1:230839016G>T	uc001hty.3	-	5	1837	c.1329C>A	c.(1327-1329)ACC>ACA	p.T443T	AGT_uc009xfe.2_3'UTR|AGT_uc009xff.2_Silent_p.T415T	NM_000029	NP_000020	P01019	ANGT_HUMAN	angiotensinogen preproprotein	443					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding				0	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TAAGCTGTTGGGTAGACTCTG	0.532000												
MYO3A	53904	broad.mit.edu	37	10	26457674	26457674	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr10:26457674A>C	uc001isn.2	+	28	3505	c.3145A>C	c.(3145-3147)AAT>CAT	p.N1049H	MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1049					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						GGAGCAGTTAAATCTAATGCG	0.353000												
SLC18A3	6572	broad.mit.edu	37	10	50819913	50819913	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr10:50819913C>T	uc001jhw.2	+	1	1567	c.1127C>T	c.(1126-1128)GCC>GTC	p.A376V	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	376	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						ATCGTGCCCGCCTGCCGCTCC	0.672000												
ZWINT	11130	broad.mit.edu	37	10	58119237	58119237	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr10:58119237C>G	uc001jjx.1	-	5	517	c.480G>C	c.(478-480)CAG>CAC	p.Q160H	ZWINT_uc001jjy.1_Missense_Mutation_p.Q160H|ZWINT_uc001jka.1_Missense_Mutation_p.Q160H|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	160	Potential.				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						ACGAACCTACCTGTTGTAGCT	0.488000												
ZWINT	11130	broad.mit.edu	37	10	58119261	58119261	+	Silent	SNP	G	G	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr10:58119261G>C	uc001jjx.1	-	5	493	c.456C>G	c.(454-456)GTC>GTG	p.V152V	ZWINT_uc001jjy.1_Silent_p.V152V|ZWINT_uc001jka.1_Silent_p.V152V|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	152	Interaction with NDC80 and ZW10.|Potential.				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						ACTGGTTCTGGACTGCTCTGC	0.478000												
KCNK18	338567	broad.mit.edu	37	10	118969314	118969314	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr10:118969314G>A	uc010qsr.1	+	3	659	c.659G>A	c.(658-660)CGC>CAC	p.R220H		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	220	Cytoplasmic (Potential).					integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)		TGTCCTTCACGCCCAAGCTGC	0.532000												
EIF3A	8661	broad.mit.edu	37	10	120802173	120802173	+	Silent	SNP	G	G	A	rs148664870	byFrequency	TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr10:120802173G>A	uc001ldu.2	-	19	3005	c.2859C>T	c.(2857-2859)GAC>GAT	p.D953D	EIF3A_uc010qsu.1_Silent_p.D919D|EIF3A_uc009xzg.1_Translation_Start_Site	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	953	4.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCCGATCATCGTCTGGTCTAA	0.587000												
OR56B1	387748	broad.mit.edu	37	11	5758675	5758675	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr11:5758675C>T	uc001mbt.1	+	1	929	c.929C>T	c.(928-930)GCC>GTC	p.A310V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CTTAGGGCAGCCTTCCAAAAG	0.423000												
MRGPRX4	117196	broad.mit.edu	37	11	18194815	18194815	+	Silent	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr11:18194815C>T	uc001mnv.1	+	1	432	c.12C>T	c.(10-12)ACC>ACT	p.T4T		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	4	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						TGGATCCAACCGTCCCAGTCT	0.438000												
OR8H3	390152	broad.mit.edu	37	11	55890770	55890770	+	Silent	SNP	A	A	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr11:55890770A>C	uc001nii.1	+	1	922	c.922A>C	c.(922-924)AGA>CGA	p.R308R		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					CATGCAGAGAAGACAGGACTC	0.338000												
OR8J1	219477	broad.mit.edu	37	11	56128326	56128326	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr11:56128326T>C	uc010rjh.1	+	1	604	c.604T>C	c.(604-606)TCT>CCT	p.S202P		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TGTCTTTATATCTGCAGCAAC	0.299000												
C11orf10	746	broad.mit.edu	37	11	61557967	61557967	+	Silent	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr11:61557967G>A	uc001nsf.2	-	2	166	c.111C>T	c.(109-111)TTC>TTT	p.F37F	FEN1_uc001nsg.2_5'Flank	NM_014206	NP_055021	P61165	CK010_HUMAN	hypothetical protein LOC746	37	Helical; (Potential).					integral to membrane				breast(1)	1						AAGGATACACGAAGAACCAGG	0.542000												
SLC22A10	387775	broad.mit.edu	37	11	63066406	63066406	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr11:63066406C>G	uc009yor.2	+	5	1053	c.845C>G	c.(844-846)TCT>TGT	p.S282C	SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.S122C	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	282	Extracellular (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						CTGGTGGAATCTGCTCGGTGG	0.398000												
CABP4	57010	broad.mit.edu	37	11	67225880	67225880	+	Silent	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr11:67225880G>A	uc001olo.2	+	5	767	c.690G>A	c.(688-690)GAG>GAA	p.E230E	CABP4_uc001oln.2_Silent_p.E125E	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	230	EF-hand 3.|2 (Potential).				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CGGTGGCGGAGCTGCGGGAGG	0.647000												
AQP11	282679	broad.mit.edu	37	11	77314623	77314623	+	Silent	SNP	A	A	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr11:77314623A>C	uc001oyj.2	+	2	1000	c.642A>C	c.(640-642)GTA>GTC	p.V214V	AQP11_uc009yuu.2_RNA	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	aquaporin 11	214	Helical; Name=5; (Potential).					cell surface|integral to membrane	transporter activity				0	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CAGGAGCTGTATTTAATCCAG	0.363000												
GPRC5A	9052	broad.mit.edu	37	12	13061831	13061831	+	Silent	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr12:13061831G>A	uc001rba.2	+	2	1298	c.648G>A	c.(646-648)ACG>ACA	p.T216T	GPRC5A_uc001raz.2_Silent_p.T216T	NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5,	216	Helical; Name=6; (Potential).					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TCTACCTCACGATGCTCCTCT	0.577000												
CAPRIN2	65981	broad.mit.edu	37	12	30872159	30872159	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr12:30872159C>A	uc001rji.1	-	13	2900	c.2149G>T	c.(2149-2151)GCA>TCA	p.A717S	CAPRIN2_uc001rjf.1_Missense_Mutation_p.A514S|CAPRIN2_uc001rjg.1_Missense_Mutation_p.A384S|CAPRIN2_uc001rjh.1_Intron|CAPRIN2_uc001rjj.1_Missense_Mutation_p.A384S|CAPRIN2_uc001rjk.3_Missense_Mutation_p.A717S|CAPRIN2_uc001rjl.3_Missense_Mutation_p.A682S|CAPRIN2_uc001rjm.1_Missense_Mutation_p.A349S	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	717					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGAATTGCTGCCTGGGGAGGA	0.498000												
SHMT2	6472	broad.mit.edu	37	12	57628067	57628067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr12:57628067C>T	uc001snf.1	+	12	1448	c.1438C>T	c.(1438-1440)CAG>TAG	p.Q480*	SHMT2_uc001sng.1_Nonsense_Mutation_p.Q376*|SHMT2_uc001snh.1_Nonsense_Mutation_p.Q319*|SHMT2_uc009zpk.1_Nonsense_Mutation_p.Q470*|SHMT2_uc001sni.1_Nonsense_Mutation_p.Q459*|SHMT2_uc010srg.1_Nonsense_Mutation_p.Q489*|SHMT2_uc001snj.1_Nonsense_Mutation_p.Q384*|SHMT2_uc010srh.1_Nonsense_Mutation_p.Q459*|SHMT2_uc001snk.1_Nonsense_Mutation_p.Q384*|SHMT2_uc010sri.1_Nonsense_Mutation_p.Q459*|SHMT2_uc001snl.2_Nonsense_Mutation_p.Q384*|SHMT2_uc010srj.1_Nonsense_Mutation_p.Q135*	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	480						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGAAACAAGTCAGCGTCTGGC	0.542000												
UTP20	27340	broad.mit.edu	37	12	101759386	101759386	+	Silent	SNP	G	G	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr12:101759386G>C	uc001tia.1	+	46	6264	c.6108G>C	c.(6106-6108)CTG>CTC	p.L2036L		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2036					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						ATCTTCCCCTGTTAACAGAGA	0.353000												
ALOX5AP	241	broad.mit.edu	37	13	31338224	31338224	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr13:31338224C>T	uc001utf.1	+	5	541	c.467C>T	c.(466-468)CCT>CTT	p.P156L	ALOX5AP_uc010tdr.1_Missense_Mutation_p.P213L	NM_001629	NP_001620	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	156	Lumenal.				cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding				0		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		ACCATCTCCCCTCTACTTCTC	0.413000												
HSPA2	3306	broad.mit.edu	37	14	65009426	65009426	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr14:65009426G>A	uc001xhj.2	+	2	1935	c.1859G>A	c.(1858-1860)GGC>GAC	p.G620D	HSPA2_uc001xhk.3_Missense_Mutation_p.G620D	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	620					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GGTCCTggcggcggcagcggc	0.433000												
HEATR4	399671	broad.mit.edu	37	14	73989212	73989212	+	Silent	SNP	G	G	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr14:73989212G>T	uc010tub.1	-	3	967	c.645C>A	c.(643-645)GCC>GCA	p.A215A	HEATR4_uc010tua.1_Silent_p.A168A	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGATCCATCGGGCTGTGCGCT	0.602000												
AHNAK2	113146	broad.mit.edu	37	14	105418917	105418917	+	Silent	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr14:105418917G>A	uc010axc.1	-	7	2991	c.2871C>T	c.(2869-2871)GGC>GGT	p.G957G	AHNAK2_uc001ypx.2_Silent_p.G857G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	957						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGACACCTCGCCATCGGGGG	0.632000												
PIAS1	8554	broad.mit.edu	37	15	68445992	68445992	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr15:68445992G>A	uc002aqz.2	+	7	989	c.893G>A	c.(892-894)CGA>CAA	p.R298Q	PIAS1_uc010ujx.1_Missense_Mutation_p.R298Q	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	298					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2						CAGAGGTTACGAGCAAAGGGA	0.328000												
PTX4	390667	broad.mit.edu	37	16	1538406	1538406	+	Silent	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr16:1538406G>A	uc010uvf.1	-	1	63	c.63C>T	c.(61-63)CCC>CCT	p.P21P		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	Error:Variant_position_missing_in_Q96A99_after_alignment						extracellular region	metal ion binding				0						GTGGGAGTCCGGGAGGCCGTT	0.657000												
NAT15	79903	broad.mit.edu	37	16	3534809	3534809	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr16:3534809C>T	uc002cvh.3	+	7	929	c.683C>T	c.(682-684)TCG>TTG	p.S228L	NAT15_uc010btl.2_5'UTR|NAT15_uc010btm.2_Missense_Mutation_p.S228L|NAT15_uc010uxc.1_Missense_Mutation_p.S228L|NAT15_uc010uxd.1_RNA|NAT15_uc010uxe.1_RNA	NM_001083601	NP_001077070	Q9H7X0	NAT15_HUMAN	N-acetyltransferase 15	228							N-acetyltransferase activity				0						CTGCCATGGTCGGGCATCTCT	0.672000												
ABAT	18	broad.mit.edu	37	16	8858686	8858686	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr16:8858686G>A	uc002czc.3	+	8	705	c.539G>A	c.(538-540)CGG>CAG	p.R180Q	ABAT_uc002czd.3_Missense_Mutation_p.R180Q|ABAT_uc010buh.2_Missense_Mutation_p.R122Q|ABAT_uc010bui.2_Missense_Mutation_p.R180Q	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	180					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			upper_aerodigestive_tract(1)	1					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ATGTGGTACCGGGTGAGGTTT	0.522000												
KIAA0182	23199	broad.mit.edu	37	16	85695249	85695249	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr16:85695249G>A	uc002fix.2	+	9	2212	c.2138G>A	c.(2137-2139)CGG>CAG	p.R713Q	KIAA0182_uc002fiw.2_Missense_Mutation_p.R609Q|KIAA0182_uc002fiy.2_Missense_Mutation_p.R640Q|KIAA0182_uc002fiz.2_5'Flank|KIAA0182_uc010cho.2_5'Flank	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	713	Pro-rich.						protein binding			large_intestine(3)|ovary(1)|skin(1)	5						TCGCCCTACCGGCCCCCAGTG	0.697000												
ZCCHC14	23174	broad.mit.edu	37	16	87525317	87525317	+	Silent	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr16:87525317G>A	uc002fjz.1	-	1	144	c.117C>T	c.(115-117)CCC>CCT	p.P39P	ZCCHC14_uc002fka.1_RNA|uc002fkc.1_5'Flank	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	39					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		cgcccggcccgggcgcgccct	0.488000												
NEURL4	84461	broad.mit.edu	37	17	7224449	7224449	+	Silent	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr17:7224449G>A	uc002gga.1	-	20	3349	c.3342C>T	c.(3340-3342)GGC>GGT	p.G1114G	NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Silent_p.G1112G	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1114							protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CATGCTCCTCGCCCTCGTCAT	0.602000												
SYNGR2	9144	broad.mit.edu	37	17	76167103	76167103	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr17:76167103A>T	uc002juu.1	+	2	332	c.305A>T	c.(304-306)AAG>ATG	p.K102M	SYNGR2_uc002jut.2_Missense_Mutation_p.K102M|SYNGR2_uc002juv.1_Missense_Mutation_p.K102M|SYNGR2_uc010dhi.1_Intron	NM_004710	NP_004701	O43760	SNG2_HUMAN	synaptogyrin 2	102	MARVEL.					integral to plasma membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			ACTGACCGCAAGTACCTGGTC	0.587000												
DNAH17	8632	broad.mit.edu	37	17	76422673	76422673	+	Silent	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr17:76422673C>T	uc010dhp.1	-	24	4002	c.3780G>A	c.(3778-3780)CTG>CTA	p.L1260L	DNAH17_uc002jvq.2_Silent_p.L545L|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCGTGATGGTCAGTTCTCCCT	0.612000												
LAMA1	284217	broad.mit.edu	37	18	7037694	7037694	+	Silent	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr18:7037694C>T	uc002knm.2	-	12	1714	c.1620G>A	c.(1618-1620)CCG>CCA	p.P540P	LAMA1_uc010wzj.1_Silent_p.P16P	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	540	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGCTGAGACGGGATCTTCC	0.507000												
SLC14A2	8170	broad.mit.edu	37	18	43248324	43248324	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr18:43248324G>A	uc010dnj.2	+	16	2239	c.1918G>A	c.(1918-1920)GCT>ACT	p.A640T	SLC14A2_uc002lbe.2_Missense_Mutation_p.A640T	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	640	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						GTCGGCCATCGCTGCAGGATT	0.567000												
ZNF560	147741	broad.mit.edu	37	19	9577900	9577900	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr19:9577900T>G	uc002mlp.1	-	10	1933	c.1723A>C	c.(1723-1725)ATG>CTG	p.M575L	ZNF560_uc010dwr.1_Missense_Mutation_p.M469L	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	575	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						CCACATTTCATACATTCATAG	0.393000												
BRD4	23476	broad.mit.edu	37	19	15353741	15353741	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr19:15353741G>A	uc002nar.2	-	14	3361	c.3139C>T	c.(3139-3141)CGG>TGG	p.R1047W		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1047					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TTGTGGTGCCGGGGTGAATGG	0.657000			T	NUT|C15orf55	lethal midline carcinoma of young people							
IFI30	10437	broad.mit.edu	37	19	18285919	18285919	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr19:18285919T>A	uc002nic.1	+	2	275	c.202T>A	c.(202-204)TAT>AAT	p.Y68N	PIK3R2_uc002nib.1_RNA	NM_006332	NP_006323	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	68					antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors				0						GACCCTCTACTATGAAGCACT	0.572000												
PDE4C	5143	broad.mit.edu	37	19	18329839	18329839	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr19:18329839C>A	uc010xqc.1	-	9	1456	c.976G>T	c.(976-978)GAC>TAC	p.D326Y	PDE4C_uc002nik.3_Missense_Mutation_p.D326Y|PDE4C_uc002nil.3_Missense_Mutation_p.D326Y|PDE4C_uc002nif.3_Missense_Mutation_p.D95Y|PDE4C_uc002nig.3_Missense_Mutation_p.D96Y|PDE4C_uc002nih.3_Missense_Mutation_p.D96Y|PDE4C_uc010ebk.2_Missense_Mutation_p.D220Y|PDE4C_uc002nii.3_Missense_Mutation_p.D294Y|PDE4C_uc010ebl.2_Missense_Mutation_p.D40Y|PDE4C_uc010xqd.1_Missense_Mutation_p.D95Y	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	326					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)	TTGTTGGTGTCTTCTAGCTCC	0.517000												
KLC3	147700	broad.mit.edu	37	19	45852836	45852836	+	Silent	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr19:45852836C>T	uc002pbf.1	+	8	1234	c.1119C>T	c.(1117-1119)AAC>AAT	p.N373N	KLC3_uc010ejy.1_Silent_p.N372N|KLC3_uc002pbg.1_Silent_p.N387N	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	kinesin light chain 3	373						cytoplasm|kinesin complex|microtubule	microtubule motor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATGACCCCAACGTGGCCAAGA	0.642000												
CD33	945	broad.mit.edu	37	19	51742771	51742771	+	Splice_Site	SNP	A	A	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr19:51742771A>C	uc002pwa.2	+	7	965	c.925_splice	c.e7-2	p.K309_splice	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Splice_Site_p.K182_splice|CD33_uc010eou.1_RNA	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor						cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCTCTCCATAAGAAACACCAG	0.502000												
KIF3C	3797	broad.mit.edu	37	2	26203307	26203307	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr2:26203307C>G	uc002rgu.2	-	1	2137	c.1480G>C	c.(1480-1482)GAG>CAG	p.E494Q	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.E494Q	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	494	Potential.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCATCTTCTCCTTCTCCTCC	0.622000												
HEATR5B	54497	broad.mit.edu	37	2	37296009	37296009	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr2:37296009A>C	uc002rpp.1	-	8	1088	c.992T>G	c.(991-993)CTG>CGG	p.L331R		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	331							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				TACATGGGACAGGAACGTGGC	0.473000												
TMEM178	130733	broad.mit.edu	37	2	39893487	39893487	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr2:39893487C>T	uc002rrt.2	+	1	398	c.373C>T	c.(373-375)CGG>TGG	p.R125W	TMEM178_uc010fam.1_Missense_Mutation_p.R125W	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	125	Extracellular (Potential).					integral to membrane					0		all_hematologic(82;0.248)				GGGCATCGACCGGGACATCGA	0.443000												
PNPT1	87178	broad.mit.edu	37	2	55872550	55872550	+	Silent	SNP	A	A	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr2:55872550A>G	uc002rzf.2	-	22	1809	c.1756T>C	c.(1756-1758)TTA>CTA	p.L586L	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	586					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATGATCTGTAATATCTCCTTT	0.279000												
RETSAT	54884	broad.mit.edu	37	2	85576544	85576544	+	Silent	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr2:85576544C>T	uc002spd.2	-	5	1151	c.960G>A	c.(958-960)GTG>GTA	p.V320V	RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Silent_p.V259V|RETSAT_uc010fgf.2_Silent_p.V111V	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	320					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)	ACACACTCTGCACAGTGGCCT	0.622000												
SCN9A	6335	broad.mit.edu	37	2	167134663	167134663	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr2:167134663C>T	uc010fpl.2	-	15	2812	c.2471G>A	c.(2470-2472)CGA>CAA	p.R824Q	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	835	II.|Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTGAATGATCGCAGAACTGA	0.338000												
ICA1L	130026	broad.mit.edu	37	2	203680659	203680659	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr2:203680659T>G	uc002uzh.1	-	8	922	c.758A>C	c.(757-759)CAT>CCT	p.H253P	ICA1L_uc002uzi.1_Missense_Mutation_p.H253P	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	253											0						ATCATACGGATGAAAGCCAAT	0.363000												
KIF1A	547	broad.mit.edu	37	2	241686695	241686695	+	Silent	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr2:241686695C>T	uc002vzy.2	-	27	2864	c.2718G>A	c.(2716-2718)TCG>TCA	p.S906S	KIF1A_uc010fzk.2_Silent_p.S1007S|KIF1A_uc002vzz.1_Silent_p.S1007S	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	906					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TAGCAGTTCCCGACTGGCGGA	0.572000												
FASTKD5	60493	broad.mit.edu	37	20	3129655	3129655	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr20:3129655G>A	uc002whz.2	-	2	373	c.62C>T	c.(61-63)GCC>GTC	p.A21V	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	21					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						TGCACCAAAGGCAGAAGGACT	0.473000												
PTPRT	11122	broad.mit.edu	37	20	40710603	40710603	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr20:40710603C>T	uc002xkg.2	-	30	4375	c.4191G>A	c.(4189-4191)ATG>ATA	p.M1397I	PTPRT_uc010ggj.2_Missense_Mutation_p.M1416I|PTPRT_uc010ggi.2_Missense_Mutation_p.M600I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1397	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTGCTGGATCATCTCACACA	0.498000												
RAB36	9609	broad.mit.edu	37	22	23503113	23503113	+	Missense_Mutation	SNP	G	G	A	rs145390018		TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr22:23503113G>A	uc002zwv.1	+	10	905	c.865G>A	c.(865-867)GAG>AAG	p.E289K	RAB36_uc010gtw.1_Missense_Mutation_p.E267K	NM_004914	NP_004905	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	289					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		CCTGGCATTCGAGCAGTCGGT	0.607000												
SELO	83642	broad.mit.edu	37	22	50647001	50647001	+	Silent	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr22:50647001G>A	uc011arr.1	+	3	853	c.795G>A	c.(793-795)GAG>GAA	p.E265E	SELO_uc010hap.2_Silent_p.E76E|SELO_uc003bjy.2_5'UTR|SELO_uc003bjz.2_5'Flank	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	265											0		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CTGCAGATGAGCACACAGGGC	0.552000												
FGD5	152273	broad.mit.edu	37	3	14861698	14861698	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr3:14861698T>G	uc003bzc.2	+	1	1230	c.1120T>G	c.(1120-1122)TCA>GCA	p.S374A	FGD5_uc011avk.1_Missense_Mutation_p.S374A	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	374					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						AGGTTTAGAATCAGAGCAGGC	0.577000												
CDC25A	993	broad.mit.edu	37	3	48224509	48224509	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr3:48224509C>G	uc003csh.1	-	5	703	c.339G>C	c.(337-339)TTG>TTC	p.L113F	CDC25A_uc003csi.1_Missense_Mutation_p.L113F	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	113					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|kidney(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GACTACATCCCAACAGCTTCT	0.388000												
UBA7	7318	broad.mit.edu	37	3	49847484	49847484	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr3:49847484G>A	uc003cxr.2	-	14	1937	c.1766C>T	c.(1765-1767)GCA>GTA	p.A589V		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	589					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCAGAAGCTGCAGCTGAGGC	0.617000												
IGSF11	152404	broad.mit.edu	37	3	118621614	118621614	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr3:118621614C>T	uc003ebw.2	-	7	1296	c.1049G>A	c.(1048-1050)GGC>GAC	p.G350D	IGSF11_uc011biv.1_Missense_Mutation_p.G322D|IGSF11_uc003ebx.2_Missense_Mutation_p.G326D|IGSF11_uc003eby.2_Missense_Mutation_p.G349D|IGSF11_uc003ebz.2_Missense_Mutation_p.G325D|IGSF11_uc010hqs.2_Missense_Mutation_p.G349D	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	350	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						GTTGGCATTGCCTGAGTGGAA	0.473000												
IFT122	55764	broad.mit.edu	37	3	129221675	129221675	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr3:129221675G>A	uc003emm.2	+	20	2703	c.2497G>A	c.(2497-2499)GAC>AAC	p.D833N	IFT122_uc003eml.2_Missense_Mutation_p.D884N|IFT122_uc003emn.2_Missense_Mutation_p.D774N|IFT122_uc003emo.2_Missense_Mutation_p.D722N|IFT122_uc003emp.2_Missense_Mutation_p.D683N|IFT122_uc010htc.2_Missense_Mutation_p.D825N|IFT122_uc011bky.1_Missense_Mutation_p.D624N|IFT122_uc003emq.2_Missense_Mutation_p.D673N|IFT122_uc003emr.2_Missense_Mutation_p.D585N|IFT122_uc011bla.1_Missense_Mutation_p.D606N|IFT122_uc010hte.2_Missense_Mutation_p.D159N|IFT122_uc003ems.2_Missense_Mutation_p.D214N|IFT122_uc011bkx.1_Missense_Mutation_p.D673N|IFT122_uc010htd.1_Missense_Mutation_p.D312N	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	833					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						GAAGATGGGTGACCTCAAGTC	0.637000												
RTP1	132112	broad.mit.edu	37	3	186917605	186917605	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr3:186917605G>A	uc003frg.2	+	2	569	c.539G>A	c.(538-540)CGC>CAC	p.R180H		NM_153708	NP_714919	P59025	RTP1_HUMAN	receptor transporting protein 1	180	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			ovary(2)|breast(1)	3	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GTGGCCAGCCGCCAGGACAAC	0.682000												
RGS12	6002	broad.mit.edu	37	4	3432142	3432142	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr4:3432142G>T	uc003ggw.2	+	17	4478	c.3574G>T	c.(3574-3576)GAG>TAG	p.E1192*	RGS12_uc003ggv.2_Nonsense_Mutation_p.E1192*|RGS12_uc003ggy.1_Missense_Mutation_p.L538F|RGS12_uc003ggz.2_Nonsense_Mutation_p.E544*|RGS12_uc011bvs.1_Missense_Mutation_p.L482F|RGS12_uc003gha.2_Nonsense_Mutation_p.E534*|RGS12_uc010icv.2_Nonsense_Mutation_p.E391*	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1192	GoLoco.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGAGTTTTTTGAGCTTATTTC	0.468000												
ANK2	287	broad.mit.edu	37	4	114223992	114223992	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr4:114223992G>T	uc003ibe.3	+	23	2645	c.2545G>T	c.(2545-2547)GAG>TAG	p.E849*	ANK2_uc003ibd.3_Nonsense_Mutation_p.E828*|ANK2_uc003ibf.3_Nonsense_Mutation_p.E849*|ANK2_uc011cgc.1_Nonsense_Mutation_p.E58*|ANK2_uc003ibc.2_Nonsense_Mutation_p.E825*|ANK2_uc011cgb.1_Nonsense_Mutation_p.E864*	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	849					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCTGATGAAGAGGGTAAGAC	0.363000												
FABP2	2169	broad.mit.edu	37	4	120241826	120241826	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr4:120241826C>A	uc003icw.2	-	2	298	c.239G>T	c.(238-240)AGG>ATG	p.R80M		NM_000134	NP_000125	P12104	FABPI_HUMAN	intestinal fatty acid binding protein 2	80							fatty acid binding			ovary(1)	1						AATTCTTACCCTGAGTTCAGT	0.313000												
PCDH10	57575	broad.mit.edu	37	4	134073167	134073167	+	Silent	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr4:134073167C>T	uc003iha.2	+	1	2698	c.1872C>T	c.(1870-1872)AAC>AAT	p.N624N	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.N624N	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	624	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TGCGTGGCAACGAAATGAACC	0.692000												
ADAM29	11086	broad.mit.edu	37	4	175897990	175897990	+	Silent	SNP	T	T	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr4:175897990T>G	uc003iuc.2	+	5	1984	c.1314T>G	c.(1312-1314)GCT>GCG	p.A438A	ADAM29_uc003iud.2_Silent_p.A438A|ADAM29_uc010irr.2_Silent_p.A438A|ADAM29_uc011cki.1_Silent_p.A438A	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	438	Disintegrin.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTACTTGTGCTTTTGGGCTTT	0.438000												
ASB5	140458	broad.mit.edu	37	4	177146474	177146474	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr4:177146474G>A	uc003iuq.1	-	2	231	c.215C>T	c.(214-216)TCA>TTA	p.S72L	ASB5_uc003iup.1_Missense_Mutation_p.S19L	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	72	ANK 1.				intracellular signal transduction					skin(2)	2		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATGTAGTGGTGATCGATCTGC	0.338000												
ADAMTS16	170690	broad.mit.edu	37	5	5235251	5235251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr5:5235251C>T	uc003jdl.2	+	13	2113	c.1975C>T	c.(1975-1977)CGA>TGA	p.R659*	ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.R659*|ADAMTS16_uc010itk.1_RNA	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	659	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CAACAGCAGACGATTCAGAGG	0.507000												
TAS2R1	50834	broad.mit.edu	37	5	9629277	9629277	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr5:9629277T>A	uc003jem.1	-	1	1187	c.868A>T	c.(868-870)AAG>TAG	p.K290*		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1	290	Cytoplasmic (Potential).				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3						AGGAGGAACTTTTTTGCATTT	0.398000												
CTNND2	1501	broad.mit.edu	37	5	11346621	11346621	+	Silent	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr5:11346621G>A	uc003jfa.1	-	9	1636	c.1491C>T	c.(1489-1491)TCC>TCT	p.S497S	CTNND2_uc010itt.2_Silent_p.S406S|CTNND2_uc011cmy.1_Silent_p.S160S|CTNND2_uc011cmz.1_Silent_p.S64S|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.S64S	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	497					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CCGCGTAATTGGAGGCTGGGC	0.652000												
DNAH5	1767	broad.mit.edu	37	5	13716678	13716678	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr5:13716678A>G	uc003jfd.2	-	74	12869	c.12827T>C	c.(12826-12828)ATG>ACG	p.M4276T	DNAH5_uc003jfc.2_Missense_Mutation_p.M444T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4276					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TGGTCCAAACATATTTTCACT	0.373000									Kartagener_syndrome			
C5orf42	65250	broad.mit.edu	37	5	37169353	37169353	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr5:37169353C>A	uc011cpa.1	-	34	7004	c.6773G>T	c.(6772-6774)AGA>ATA	p.R2258I	C5orf42_uc011coy.1_Missense_Mutation_p.R758I|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.R1333I|C5orf42_uc003jkr.1_Missense_Mutation_p.R291I	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	2258										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCAAGCCTCTCTTGGTTGTGG	0.443000												
IQGAP2	10788	broad.mit.edu	37	5	75967731	75967731	+	Silent	SNP	G	G	A	rs144328533	byFrequency	TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr5:75967731G>A	uc003kek.2	+	24	3213	c.2991G>A	c.(2989-2991)TCG>TCA	p.S997S	IQGAP2_uc010izv.2_Silent_p.S550S|IQGAP2_uc011csv.1_Silent_p.S493S|IQGAP2_uc003kel.2_Silent_p.S493S|IQGAP2_uc010izw.1_5'Flank	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	997	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACGACAAGTCGCTGATTATCA	0.502000												
ATP6AP1L	92270	broad.mit.edu	37	5	81613993	81613993	+	Silent	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr5:81613993C>T	uc003khv.2	+	10	1874	c.549C>T	c.(547-549)ATC>ATT	p.I183I	ATP6AP1L_uc003khw.2_Silent_p.I183I	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory	183					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0						ATGATCTCATCGCCTCTCCTG	0.557000												
PCDHB4	56131	broad.mit.edu	37	5	140502259	140502259	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr5:140502259G>A	uc003lip.1	+	1	679	c.679G>A	c.(679-681)GTT>ATT	p.V227I		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	227	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACGGTCATGGTTCGAATCCT	0.547000												
PCDHGA4	56111	broad.mit.edu	37	5	140736094	140736094	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr5:140736094A>G	uc003ljq.1	+	1	1327	c.1327A>G	c.(1327-1329)ATG>GTG	p.M443V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.M443V	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	443	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCAAGTGATGGACATCAA	0.463000												
SCGN	10590	broad.mit.edu	37	6	25670264	25670264	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr6:25670264C>T	uc003nfb.2	+	6	634	c.431C>T	c.(430-432)GCC>GTC	p.A144V	SCGN_uc010jpz.2_Missense_Mutation_p.P54S	NM_006998	NP_008929	O76038	SEGN_HUMAN	secretagogin precursor	144						extracellular region|transport vesicle membrane	calcium ion binding			ovary(2)|pancreas(1)	3						CACAAAAAGGCCATTTCTGAG	0.313000												
VPS52	6293	broad.mit.edu	37	6	33231791	33231791	+	Silent	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr6:33231791C>T	uc003odm.1	-	15	1824	c.1614G>A	c.(1612-1614)CAG>CAA	p.Q538Q	VPS52_uc003odn.1_Silent_p.Q349Q	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	538					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						TCACCTGCAGCTGTCCCAGCA	0.567000												
DST	667	broad.mit.edu	37	6	56716385	56716385	+	Silent	SNP	G	G	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr6:56716385G>C	uc003pdf.2	-	4	463	c.435C>G	c.(433-435)TCC>TCG	p.S145S	DST_uc011dxj.1_5'UTR|DST_uc011dxk.1_Silent_p.S7S|DST_uc011dxl.1_5'UTR	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	Error:Variant_position_missing_in_Q03001_after_alignment					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCAGCGATAGGACGCGTTCC	0.483000											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PHACTR2	9749	broad.mit.edu	37	6	144075049	144075049	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr6:144075049G>A	uc003qjq.3	+	4	551	c.421G>A	c.(421-423)GAG>AAG	p.E141K	PHACTR2_uc010khh.2_Missense_Mutation_p.A141T|PHACTR2_uc010khi.2_Missense_Mutation_p.E152K|PHACTR2_uc003qjr.3_Missense_Mutation_p.A152T	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	141							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AGATAAGAAAGGTAAAATAAA	0.393000												
SYNE1	23345	broad.mit.edu	37	6	152725384	152725384	+	Silent	SNP	T	T	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr6:152725384T>C	uc010kiw.2	-	46	7391	c.6789A>G	c.(6787-6789)GAA>GAG	p.E2263E	SYNE1_uc003qot.3_Silent_p.E2270E|SYNE1_uc003qou.3_Silent_p.E2263E|SYNE1_uc010kjb.1_Silent_p.E2246E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2263	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTAGTTAATTCTTTCAGAT	0.328000										HNSCC(10;0.0054)		
TIAM2	26230	broad.mit.edu	37	6	155504497	155504497	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr6:155504497A>G	uc003qqb.2	+	16	4200	c.2927A>G	c.(2926-2928)GAC>GGC	p.D976G	TIAM2_uc003qqe.2_Missense_Mutation_p.D976G|TIAM2_uc010kjj.2_Missense_Mutation_p.D509G|TIAM2_uc003qqf.2_Missense_Mutation_p.D352G|TIAM2_uc011efl.1_Missense_Mutation_p.D312G|TIAM2_uc003qqg.2_Missense_Mutation_p.D288G	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	976	PDZ.				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)		CGGCCTCCGGACACAAAAGCA	0.547000												
DGKB	1607	broad.mit.edu	37	7	14613993	14613993	+	Silent	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr7:14613993G>A	uc003ssz.2	-	19	1804	c.1617C>T	c.(1615-1617)TAC>TAT	p.Y539Y	DGKB_uc011jxt.1_Silent_p.Y520Y|DGKB_uc003sta.2_Silent_p.Y539Y|DGKB_uc011jxu.1_Silent_p.Y538Y	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	539	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	TCTCACCTTCGTAACCTAGTG	0.323000												
LHFPL3	375612	broad.mit.edu	37	7	104377349	104377349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr7:104377349G>T	uc003vce.2	+	2	797	c.673G>T	c.(673-675)GAA>TAA	p.E225*	LHFPL3_uc003vcf.2_Nonsense_Mutation_p.E225*	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	211						integral to membrane					0						ACTGAAGGCAGAAAACAAAGG	0.433000												
MSR1	4481	broad.mit.edu	37	8	16021687	16021687	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr8:16021687T>C	uc003wwz.2	-	5	902	c.704A>G	c.(703-705)CAT>CGT	p.H235R	MSR1_uc010lsu.2_Missense_Mutation_p.H253R|MSR1_uc003wxa.2_Missense_Mutation_p.H235R|MSR1_uc003wxb.2_Missense_Mutation_p.H235R|MSR1_uc011kxz.1_Missense_Mutation_p.H9R	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	235	Potential.|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTGTTCCAAATGCACTTGTTC	0.353000												
ADAM7	8756	broad.mit.edu	37	8	24358343	24358343	+	Silent	SNP	C	C	T	rs149009178		TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr8:24358343C>T	uc003xeb.2	+	19	2156	c.2043C>T	c.(2041-2043)GTC>GTT	p.V681V	ADAM7_uc003xec.2_Silent_p.V453V	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	681	Helical; (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGGTTATTGTCGGTATCGGAG	0.378000												
RUNX1T1	862	broad.mit.edu	37	8	92983012	92983012	+	Silent	SNP	C	C	T	rs142225049	by1000genomes	TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr8:92983012C>T	uc003yfd.2	-	10	1497	c.1413G>A	c.(1411-1413)GCG>GCA	p.A471A	RUNX1T1_uc003yfc.1_Silent_p.A444A|RUNX1T1_uc003yfe.1_Silent_p.A434A|RUNX1T1_uc010mao.2_Silent_p.A444A|RUNX1T1_uc011lgi.1_Silent_p.A482A|RUNX1T1_uc010man.1_Silent_p.A96A|RUNX1T1_uc003yfb.1_Silent_p.A434A	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	471			A -> V (in a colorectal cancer sample; somatic mutation).		generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTTTCCGCTCCGCCTCAGACA	0.617000												
SPAG1	6674	broad.mit.edu	37	8	101237549	101237549	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr8:101237549C>G	uc003yjh.1	+	14	1923	c.1837C>G	c.(1837-1839)CGC>GGC	p.R613G	SPAG1_uc003yji.1_Missense_Mutation_p.R613G	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	613					single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		CAGCAGCCATCGCCAGCAGGG	0.468000												
EIF3H	8667	broad.mit.edu	37	8	117658748	117658748	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr8:117658748G>A	uc003yoa.2	-	7	949	c.923C>T	c.(922-924)CCA>CTA	p.P308L	EIF3H_uc003yob.2_Missense_Mutation_p.P322L	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	308					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(3)	3	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					AGGCGGCTGTGGTGGTTTGAA	0.547000												
TJP2	9414	broad.mit.edu	37	9	71840295	71840295	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr9:71840295A>G	uc004ahe.2	+	6	1228	c.1028A>G	c.(1027-1029)AAC>AGC	p.N343S	TJP2_uc011lrs.1_Missense_Mutation_p.N320S|TJP2_uc011lrt.1_Missense_Mutation_p.N320S|TJP2_uc004ahd.2_Missense_Mutation_p.N343S|TJP2_uc004ahf.2_Missense_Mutation_p.N343S|TJP2_uc011lru.1_Missense_Mutation_p.N347S|TJP2_uc011lrv.1_Missense_Mutation_p.N365S	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	343	PDZ 2.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						AAAGATGGCAACCTTCACGAA	0.498000												
C9orf135	138255	broad.mit.edu	37	9	72521031	72521031	+	Silent	SNP	T	T	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr9:72521031T>C	uc004ahl.2	+	6	734	c.669T>C	c.(667-669)AGT>AGC	p.S223S	C9orf135_uc011lrw.1_3'UTR|C9orf135_uc010moq.2_Silent_p.S115S|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_3'UTR	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	hypothetical protein LOC138255	223	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						CCTTGACTAGTGGGCCTATTG	0.333000												
FBP1	2203	broad.mit.edu	37	9	97367856	97367856	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr9:97367856A>C	uc004auw.3	-	6	1039	c.708T>G	c.(706-708)GAT>GAG	p.D236E	FBP1_uc010mrl.2_Missense_Mutation_p.D236E	NM_000507	NP_000498	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	236					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	GAGCTGAATTATCCTGCAAGT	0.403000												
SUSD1	64420	broad.mit.edu	37	9	114840902	114840902	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr9:114840902G>A	uc004bfu.2	-	12	1710	c.1669C>T	c.(1669-1671)CGT>TGT	p.R557C	SUSD1_uc010mui.2_Missense_Mutation_p.R557C|SUSD1_uc010muj.2_Missense_Mutation_p.R557C	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1 precursor	557	Extracellular (Potential).					integral to membrane	calcium ion binding				0						GTACCCGGACGTAGGTCCAAG	0.498000												
SH2D3C	10044	broad.mit.edu	37	9	130504085	130504085	+	Silent	SNP	A	A	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr9:130504085A>G	uc004bsc.2	-	9	2212	c.2070T>C	c.(2068-2070)GGT>GGC	p.G690G	SH2D3C_uc010mxo.2_Silent_p.G530G|SH2D3C_uc004bry.2_Silent_p.G532G|SH2D3C_uc004brz.3_Silent_p.G336G|SH2D3C_uc011mak.1_Silent_p.G336G|SH2D3C_uc004bsa.2_Silent_p.G533G|SH2D3C_uc004bsb.2_Silent_p.G622G	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	690	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						TGTCCAGGGCACCCATGACCG	0.632000												
GBGT1	26301	broad.mit.edu	37	9	136029548	136029548	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr9:136029548C>T	uc004ccw.2	-	7	741	c.460G>A	c.(460-462)GTT>ATT	p.V154I	RALGDS_uc011mcw.1_Intron|GBGT1_uc004ccx.2_Missense_Mutation_p.V107I|GBGT1_uc010nab.2_3'UTR|GBGT1_uc011mcx.1_Missense_Mutation_p.V137I|GBGT1_uc010nac.1_Missense_Mutation_p.V18I|GBGT1_uc004ccy.1_3'UTR	NM_021996	NP_068836	Q8N5D6	GBGT1_HUMAN	globoside	154	Lumenal (Potential).				carbohydrate metabolic process|glycolipid biosynthetic process	Golgi membrane|integral to membrane	metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACCCCGGGAACGGCTGCAGGG	0.602000												
ADAMTS13	11093	broad.mit.edu	37	9	136320437	136320437	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr9:136320437C>T	uc004cdv.3	+	25	3724	c.3280C>T	c.(3280-3282)CGC>TGC	p.R1094C	ADAMTS13_uc004cdp.3_Missense_Mutation_p.R321C|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R1094C|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R1063C|ADAMTS13_uc004cdw.3_Missense_Mutation_p.R1094C|ADAMTS13_uc004cdx.3_Missense_Mutation_p.R1063C|ADAMTS13_uc004cdz.3_Missense_Mutation_p.R764C|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.3_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1094	TSP type-1 8.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGCATCCAGCGCCGGCGTGA	0.577000												
BRS3	680	broad.mit.edu	37	X	135572290	135572290	+	Splice_Site	SNP	A	A	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chrX:135572290A>G	uc004ezv.1	+	2	584	c.435_splice	c.e2-2	p.R145_splice		NM_001727	NP_001718	P32247	BRS3_HUMAN	bombesin-like receptor 3						adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					ATGTGTTTCTAGATACAAGGC	0.313000												
EIF2C4	192670	broad.mit.edu	37	1	36297027	36297028	+	Splice_Site	INS	-	-	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr1:36297027_36297028insT	uc001bzj.1	+	8	1039	c.849_splice	c.e8-1	p.T283_splice		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4						mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCTCCTATAGTTTTCCTTTGC	0.257												
EIF2C4	192670	broad.mit.edu	37	1	36297028	36297029	+	Splice_Site	INS	-	-	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr1:36297027_36297028G>GT	uc001bzj.2	+	8	1039	c.849_splice	c.e8-1	p.T283_splice		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA.	283	PAZ.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCTCCTATAGTTTTCCTTTGC	0.351												
EIF2C4	192670	broad.mit.edu	37	1	36297027	36297028	+	Splice_Site	INS	-	-	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr1:36297027_36297028insT	uc001bzj.1	+	8	1039	c.849_splice	c.e8-1	p.T283_splice		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4						mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCTCCTATAGTTTTCCTTTGC	0.257												
BTNL3	10917	broad.mit.edu	37	5	180432479	180432479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr5:180432479delC	uc003mmr.2	+	8	1136	c.1008delC	c.(1006-1008)TTCfs	p.F336fs	BTNL3_uc010jlp.2_Frame_Shift_Del_p.F121fs	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3 precursor	336	B30.2/SPRY.|Cytoplasmic (Potential).				lipid metabolic process	integral to membrane					0	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CTCAGGGTTTCCAAGCAGGGA	0.493												
OR2A25	392138	broad.mit.edu	37	7	143772005	143772005	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr7:143772005delG	uc011ktx.1	+	1	693	c.693delG	c.(691-693)GAGfs	p.E231fs		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)					AGTCAGGAGAGGGGTGCCAGA	0.483												
EIF2C4	192670	broad.mit.edu	37	1	36297028	36297029	+	Splice_Site	INS	-	-	T			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr1:36297027_36297028G>GT	uc001bzj.2	+	8	1039	c.849_splice	c.e8-1	p.T283_splice		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA.	283	PAZ.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCTCCTATAGTTTTCCTTTGC	0.351												
SYCP1	6847	broad.mit.edu	37	1	115428813	115428813	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr1:115428812_115428812GA>G	uc001efr.3	+	13	1281	c.1072_1072GA>G	c.(1072-1074)gaafs	p.E358fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Del_p.E358fs|SYCP1_uc009wgw.3_Frame_Shift_Del_p.E358fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	358					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTAACTGAAGAAAAAGAAAC	0.323												
TAF5L	27097	broad.mit.edu	37	1	229730496	229730521	+	Frame_Shift_Del	DEL	AGTTTGAATTAGGGTGGAATTTGACA	AGTTTGAATTAGGGTGGAATTTGACA	-			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr1:229730495_229730520TAGTTTGAATTAGGGTGGAATTTGACA>T	uc001htq.3	-	4	1460_1485	c.1294_1319TGTCAAATTCCACCCTAATTCAAACTA>A	c.(1294-1320)gtcaaattccaccctaattcaaactacfs	p.V432fs		NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	432					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CGTGGCCAAGTAGTTTGAATTAGGGTGGAATTTGACACAGTCCACA	0.597												
ADH6	130	broad.mit.edu	37	4	100128702	100128703	+	In_Frame_Ins	INS	-	-	CCC			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr4:100128701_100128702A>ACCC	uc003huo.2	-	6	959_960	c.865_866T>GGGT	c.(865-867)gtc>GGGTc	p.V289G	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_In_Frame_Ins_p.V80G|ADH6_uc003hup.4_In_Frame_Ins_p.V289G|ADH6_uc010ile.3_Intron	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	289					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	AACCACACAGACCCCATAGCTC	0.475												
SLCO2B1	11309	broad.mit.edu	37	11	74880733	74880748	+	Frame_Shift_Del	DEL	GATGGGGCCAGGCCTG	GATGGGGCCAGGCCTG	-	rs140630595		TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr11:74880732_74880747TGATGGGGCCAGGCCTG>T	uc001owb.3	+	5	1099_1114	c.704_719TGATGGGGCCAGGCCTG>T	c.(703-720)atgatggggccaggcctgfs	p.M235fs	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Frame_Shift_Del_p.M91fs|SLCO2B1_uc010rrs.2_Frame_Shift_Del_p.M119fs|SLCO2B1_uc001owc.3_Intron|SLCO2B1_uc001owd.3_Frame_Shift_Del_p.M213fs	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	235					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GCAGTGACCATGATGGGGCCAGGCCTGGCCTTTGGG	0.565												
AOC3	8639	broad.mit.edu	37	17	41003597	41003598	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8373-01A-11D-2340-08	TCGA-BR-8373-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f2a8889-4374-4037-bb56-0f20733380e3	2c5cc2c4-1c45-478b-9575-8e0206bb7de3	g.chr17:41003596_41003597T>TG	uc002ibv.3	+	0	396_397	c.236_237T>TG	c.(235-237)ctgfs	p.L79fs		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	79					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACCCAGCGGCTGGGGCCAGGGC	0.658												
